Incidental Mutation 'R1840:Kif1b'
| ID |
205683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif1b
|
| Ensembl Gene |
ENSMUSG00000063077 |
| Gene Name |
kinesin family member 1B |
| Synonyms |
Kif1b beta, KIF1Bp130, A530096N05Rik, D4Mil1e, Kif1b alpha, N-3 kinesin, KIF1Bp204 |
| MMRRC Submission |
039866-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1840 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
149176319-149307693 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149188132 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 138
(R138Q)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055647]
[ENSMUST00000060537]
|
| AlphaFold |
Q60575 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055647
AA Change: R1414Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: R1414Q
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
5.85e-176 |
SMART |
|
low complexity region
|
389 |
404 |
N/A |
INTRINSIC |
|
FHA
|
509 |
566 |
1.61e-4 |
SMART |
|
coiled coil region
|
626 |
685 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
799 |
846 |
9.7e-13 |
PFAM |
|
internal_repeat_1
|
901 |
933 |
7.01e-7 |
PROSPERO |
|
low complexity region
|
1165 |
1179 |
N/A |
INTRINSIC |
|
Pfam:DUF3694
|
1220 |
1368 |
1.1e-46 |
PFAM |
|
low complexity region
|
1444 |
1461 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1591 |
N/A |
INTRINSIC |
|
PH
|
1656 |
1755 |
1.02e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060537
AA Change: R1460Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: R1460Q
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
7.61e-175 |
SMART |
|
low complexity region
|
390 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
450 |
N/A |
INTRINSIC |
|
FHA
|
555 |
612 |
1.61e-4 |
SMART |
|
coiled coil region
|
672 |
731 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
845 |
892 |
7.1e-15 |
PFAM |
|
internal_repeat_1
|
947 |
979 |
4.76e-7 |
PROSPERO |
|
low complexity region
|
1211 |
1225 |
N/A |
INTRINSIC |
|
Pfam:DUF3694
|
1266 |
1413 |
1.1e-40 |
PFAM |
|
low complexity region
|
1490 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1525 |
1553 |
N/A |
INTRINSIC |
|
low complexity region
|
1619 |
1637 |
N/A |
INTRINSIC |
|
PH
|
1702 |
1801 |
1.02e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139123
AA Change: R138Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: R138Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3694
|
1 |
92 |
4.4e-23 |
PFAM |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
316 |
N/A |
INTRINSIC |
|
PH
|
381 |
480 |
1.02e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150853
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029I15Rik |
T |
C |
2: 92,383,209 (GRCm38) |
S36P |
probably benign |
Het |
| 2510009E07Rik |
T |
A |
16: 21,653,486 (GRCm38) |
M85L |
probably benign |
Het |
| Aatk |
T |
G |
11: 120,013,732 (GRCm38) |
D206A |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,500,231 (GRCm38) |
D719G |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,167,415 (GRCm38) |
R1797C |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,690,161 (GRCm38) |
M734K |
probably benign |
Het |
| Asph |
T |
A |
4: 9,601,340 (GRCm38) |
M136L |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,456,530 (GRCm38) |
V2431E |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 99,022,929 (GRCm38) |
H1158R |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,371,033 (GRCm38) |
|
probably null |
Het |
| BC024139 |
G |
T |
15: 76,120,642 (GRCm38) |
S611R |
probably benign |
Het |
| Becn1 |
C |
T |
11: 101,295,566 (GRCm38) |
G105S |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,286,408 (GRCm38) |
E70G |
probably damaging |
Het |
| Cacul1 |
A |
T |
19: 60,534,250 (GRCm38) |
L282* |
probably null |
Het |
| Ccar1 |
T |
A |
10: 62,763,510 (GRCm38) |
K614M |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 46,099,092 (GRCm38) |
T189A |
probably benign |
Het |
| Cdh5 |
C |
A |
8: 104,126,616 (GRCm38) |
Y189* |
probably null |
Het |
| Chka |
A |
G |
19: 3,886,460 (GRCm38) |
N284S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,774,480 (GRCm38) |
I366F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,607,164 (GRCm38) |
G3372E |
probably damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,543,006 (GRCm38) |
|
probably null |
Het |
| Dcaf6 |
A |
G |
1: 165,399,748 (GRCm38) |
V270A |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 61,969,553 (GRCm38) |
I608N |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,834,198 (GRCm38) |
C1849* |
probably null |
Het |
| Eci3 |
C |
A |
13: 34,960,041 (GRCm38) |
V34L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,363,588 (GRCm38) |
R583H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,834,947 (GRCm38) |
N720K |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,229,504 (GRCm38) |
R346* |
probably null |
Het |
| Fam189a1 |
C |
A |
7: 64,759,195 (GRCm38) |
V484L |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,445,821 (GRCm38) |
T699I |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,803,221 (GRCm38) |
V427A |
possibly damaging |
Het |
| Fzd9 |
T |
A |
5: 135,249,571 (GRCm38) |
T487S |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,422,251 (GRCm38) |
Y160C |
possibly damaging |
Het |
| Gm10264 |
T |
C |
12: 88,329,411 (GRCm38) |
V53A |
probably benign |
Het |
| Gm10269 |
T |
C |
18: 20,682,809 (GRCm38) |
K52R |
probably damaging |
Het |
| Gm16432 |
A |
G |
1: 178,003,015 (GRCm38) |
D30G |
possibly damaging |
Het |
| Gm8674 |
A |
T |
13: 49,901,765 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,150,481 (GRCm38) |
V288A |
possibly damaging |
Het |
| Gramd4 |
T |
C |
15: 86,130,192 (GRCm38) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 8,979,464 (GRCm38) |
L403P |
probably benign |
Het |
| H6pd |
A |
T |
4: 149,982,050 (GRCm38) |
D626E |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,658,106 (GRCm38) |
L769* |
probably null |
Het |
| Hes5 |
A |
G |
4: 154,961,254 (GRCm38) |
K58R |
probably damaging |
Het |
| Heyl |
A |
G |
4: 123,241,390 (GRCm38) |
I59V |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,118,600 (GRCm38) |
F48L |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,606,218 (GRCm38) |
R583Q |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,233,085 (GRCm38) |
G626R |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,778,032 (GRCm38) |
I390F |
probably damaging |
Het |
| Kat5 |
C |
T |
19: 5,609,238 (GRCm38) |
V95M |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,745,341 (GRCm38) |
I827F |
possibly damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Lats1 |
T |
A |
10: 7,710,939 (GRCm38) |
L955* |
probably null |
Het |
| Ldlrad2 |
A |
C |
4: 137,572,184 (GRCm38) |
C110G |
possibly damaging |
Het |
| Lgi3 |
G |
A |
14: 70,534,776 (GRCm38) |
|
probably null |
Het |
| Lingo1 |
A |
G |
9: 56,620,558 (GRCm38) |
M249T |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 126,013,389 (GRCm38) |
R993* |
probably null |
Het |
| Lsm14b |
T |
A |
2: 180,026,728 (GRCm38) |
I74N |
probably damaging |
Het |
| Lyplal1 |
T |
A |
1: 186,100,217 (GRCm38) |
I114F |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 95,365,420 (GRCm38) |
Y86C |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,186,487 (GRCm38) |
E816G |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,249,735 (GRCm38) |
N151S |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,502,250 (GRCm38) |
E1082V |
possibly damaging |
Het |
| Nrg4 |
A |
C |
9: 55,282,606 (GRCm38) |
|
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,738,339 (GRCm38) |
L101P |
probably damaging |
Het |
| Olfr1180 |
T |
C |
2: 88,412,067 (GRCm38) |
D197G |
probably benign |
Het |
| Olfr126 |
A |
T |
17: 37,850,748 (GRCm38) |
D52V |
probably damaging |
Het |
| Olfr521 |
A |
T |
7: 99,767,596 (GRCm38) |
T145S |
probably benign |
Het |
| Olfr638 |
A |
G |
7: 104,004,117 (GRCm38) |
I281V |
probably benign |
Het |
| Olfr992 |
G |
A |
2: 85,400,168 (GRCm38) |
R122C |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,863,449 (GRCm38) |
E169V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,670,203 (GRCm38) |
N130Y |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,670,117 (GRCm38) |
R101H |
probably damaging |
Het |
| Plscr1 |
A |
T |
9: 92,258,074 (GRCm38) |
S5C |
unknown |
Het |
| Plxdc2 |
T |
C |
2: 16,669,856 (GRCm38) |
V338A |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,610,438 (GRCm38) |
N364I |
possibly damaging |
Het |
| Psmg4 |
A |
G |
13: 34,178,056 (GRCm38) |
E109G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,210,884 (GRCm38) |
E908G |
probably damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,786,851 (GRCm38) |
R26H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,478,766 (GRCm38) |
N1769K |
probably benign |
Het |
| Rbm14 |
C |
T |
19: 4,801,795 (GRCm38) |
|
probably benign |
Het |
| Rgs7 |
A |
T |
1: 175,153,148 (GRCm38) |
D103E |
probably damaging |
Het |
| Rmnd5a |
G |
A |
6: 71,398,455 (GRCm38) |
L80F |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,928,989 (GRCm38) |
D93E |
probably benign |
Het |
| Rps6ka6 |
A |
G |
X: 111,420,932 (GRCm38) |
I246T |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,826,172 (GRCm38) |
M803V |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,750,820 (GRCm38) |
Y2889C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,313,725 (GRCm38) |
N671S |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,819,844 (GRCm38) |
T134A |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,953,717 (GRCm38) |
T122N |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,357,468 (GRCm38) |
D4E |
unknown |
Het |
| Smim18 |
A |
G |
8: 33,742,348 (GRCm38) |
M81T |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,815,465 (GRCm38) |
H281Q |
probably damaging |
Het |
| Sparc |
C |
A |
11: 55,395,866 (GRCm38) |
C302F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 122,101,756 (GRCm38) |
L535P |
probably damaging |
Het |
| Spsb1 |
G |
A |
4: 149,906,631 (GRCm38) |
T160I |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,140,530 (GRCm38) |
N128S |
probably benign |
Het |
| Strc |
T |
C |
2: 121,379,296 (GRCm38) |
E182G |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 14,254,829 (GRCm38) |
M2T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 95,981,844 (GRCm38) |
N499S |
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,365,657 (GRCm38) |
|
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,725,676 (GRCm38) |
S372T |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,604,599 (GRCm38) |
S289T |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,842,312 (GRCm38) |
E259G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,330,974 (GRCm38) |
I1390L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,342,043 (GRCm38) |
R921W |
probably damaging |
Het |
| Tmem126a |
C |
A |
7: 90,452,884 (GRCm38) |
G36* |
probably null |
Het |
| Tmem245 |
C |
T |
4: 56,903,947 (GRCm38) |
V606I |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,866,267 (GRCm38) |
D1665G |
probably benign |
Het |
| Ubac2 |
T |
G |
14: 121,994,262 (GRCm38) |
V200G |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,917 (GRCm38) |
A2372V |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,219,517 (GRCm38) |
P285S |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,071,537 (GRCm38) |
V199A |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,610,406 (GRCm38) |
K369* |
probably null |
Het |
| Xpnpep3 |
G |
T |
15: 81,427,353 (GRCm38) |
A87S |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 11,161,026 (GRCm38) |
R95H |
probably damaging |
Het |
| Zdhhc11 |
A |
G |
13: 73,974,652 (GRCm38) |
N169S |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,216,388 (GRCm38) |
D435E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,511,525 (GRCm38) |
D1007G |
possibly damaging |
Het |
|
| Other mutations in Kif1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Kif1b
|
APN |
4 |
149,220,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01943:Kif1b
|
APN |
4 |
149,214,905 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02240:Kif1b
|
APN |
4 |
149,246,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02414:Kif1b
|
APN |
4 |
149,199,314 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02490:Kif1b
|
APN |
4 |
149,204,208 (GRCm38) |
missense |
probably benign |
|
|
IGL02501:Kif1b
|
APN |
4 |
149,214,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02833:Kif1b
|
APN |
4 |
149,246,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02852:Kif1b
|
APN |
4 |
149,291,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02900:Kif1b
|
APN |
4 |
149,180,809 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL03287:Kif1b
|
APN |
4 |
149,214,981 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL03412:Kif1b
|
APN |
4 |
149,274,939 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4305001:Kif1b
|
UTSW |
4 |
149,220,792 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0005:Kif1b
|
UTSW |
4 |
149,181,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0044:Kif1b
|
UTSW |
4 |
149,263,601 (GRCm38) |
splice site |
probably benign |
|
|
R0044:Kif1b
|
UTSW |
4 |
149,263,601 (GRCm38) |
splice site |
probably benign |
|
|
R0129:Kif1b
|
UTSW |
4 |
149,261,201 (GRCm38) |
missense |
probably benign |
|
|
R0180:Kif1b
|
UTSW |
4 |
149,213,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0288:Kif1b
|
UTSW |
4 |
149,199,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0360:Kif1b
|
UTSW |
4 |
149,262,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0383:Kif1b
|
UTSW |
4 |
149,202,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0398:Kif1b
|
UTSW |
4 |
149,204,231 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0403:Kif1b
|
UTSW |
4 |
149,181,967 (GRCm38) |
nonsense |
probably null |
|
|
R0445:Kif1b
|
UTSW |
4 |
149,188,009 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1466:Kif1b
|
UTSW |
4 |
149,223,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1466:Kif1b
|
UTSW |
4 |
149,223,252 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1681:Kif1b
|
UTSW |
4 |
149,195,501 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1728:Kif1b
|
UTSW |
4 |
149,187,722 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1874:Kif1b
|
UTSW |
4 |
149,187,632 (GRCm38) |
missense |
probably benign |
|
|
R1915:Kif1b
|
UTSW |
4 |
149,267,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2106:Kif1b
|
UTSW |
4 |
149,187,640 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2124:Kif1b
|
UTSW |
4 |
149,222,296 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2126:Kif1b
|
UTSW |
4 |
149,187,640 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2127:Kif1b
|
UTSW |
4 |
149,187,640 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2128:Kif1b
|
UTSW |
4 |
149,187,640 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2129:Kif1b
|
UTSW |
4 |
149,187,640 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2146:Kif1b
|
UTSW |
4 |
149,184,309 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2255:Kif1b
|
UTSW |
4 |
149,274,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2392:Kif1b
|
UTSW |
4 |
149,220,620 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2883:Kif1b
|
UTSW |
4 |
149,237,648 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2981:Kif1b
|
UTSW |
4 |
149,220,541 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3038:Kif1b
|
UTSW |
4 |
149,213,333 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3616:Kif1b
|
UTSW |
4 |
149,262,283 (GRCm38) |
splice site |
probably benign |
|
|
R3935:Kif1b
|
UTSW |
4 |
149,237,160 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4347:Kif1b
|
UTSW |
4 |
149,247,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4423:Kif1b
|
UTSW |
4 |
149,214,105 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4637:Kif1b
|
UTSW |
4 |
149,199,311 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4745:Kif1b
|
UTSW |
4 |
149,237,882 (GRCm38) |
nonsense |
probably null |
|
|
R4807:Kif1b
|
UTSW |
4 |
149,247,921 (GRCm38) |
intron |
probably benign |
|
|
R5618:Kif1b
|
UTSW |
4 |
149,269,889 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5644:Kif1b
|
UTSW |
4 |
149,238,482 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5683:Kif1b
|
UTSW |
4 |
149,222,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5696:Kif1b
|
UTSW |
4 |
149,273,849 (GRCm38) |
splice site |
probably null |
|
|
R6022:Kif1b
|
UTSW |
4 |
149,198,532 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6048:Kif1b
|
UTSW |
4 |
149,263,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6137:Kif1b
|
UTSW |
4 |
149,238,426 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6139:Kif1b
|
UTSW |
4 |
149,237,532 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6171:Kif1b
|
UTSW |
4 |
149,258,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6250:Kif1b
|
UTSW |
4 |
149,213,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6423:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6424:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6425:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6443:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6460:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6462:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6463:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6469:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6470:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6471:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6472:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6504:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6536:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6537:Kif1b
|
UTSW |
4 |
149,192,596 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6668:Kif1b
|
UTSW |
4 |
149,213,407 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6698:Kif1b
|
UTSW |
4 |
149,274,956 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7065:Kif1b
|
UTSW |
4 |
149,202,525 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7222:Kif1b
|
UTSW |
4 |
149,225,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7342:Kif1b
|
UTSW |
4 |
149,214,090 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7720:Kif1b
|
UTSW |
4 |
149,182,355 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7744:Kif1b
|
UTSW |
4 |
149,237,075 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7797:Kif1b
|
UTSW |
4 |
149,237,387 (GRCm38) |
missense |
probably benign |
|
|
R7829:Kif1b
|
UTSW |
4 |
149,220,990 (GRCm38) |
splice site |
probably null |
|
|
R7869:Kif1b
|
UTSW |
4 |
149,184,376 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7878:Kif1b
|
UTSW |
4 |
149,214,997 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7980:Kif1b
|
UTSW |
4 |
149,269,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8047:Kif1b
|
UTSW |
4 |
149,214,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8237:Kif1b
|
UTSW |
4 |
149,191,185 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8243:Kif1b
|
UTSW |
4 |
149,204,267 (GRCm38) |
missense |
probably benign |
|
|
R8252:Kif1b
|
UTSW |
4 |
149,273,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8342:Kif1b
|
UTSW |
4 |
149,222,348 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8460:Kif1b
|
UTSW |
4 |
149,187,620 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8462:Kif1b
|
UTSW |
4 |
149,182,340 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8496:Kif1b
|
UTSW |
4 |
149,192,611 (GRCm38) |
nonsense |
probably null |
|
|
R8687:Kif1b
|
UTSW |
4 |
149,261,163 (GRCm38) |
nonsense |
probably null |
|
|
R8694:Kif1b
|
UTSW |
4 |
149,220,567 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8842:Kif1b
|
UTSW |
4 |
149,253,739 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8883:Kif1b
|
UTSW |
4 |
149,276,885 (GRCm38) |
missense |
probably benign |
|
|
R8971:Kif1b
|
UTSW |
4 |
149,247,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8994:Kif1b
|
UTSW |
4 |
149,195,482 (GRCm38) |
missense |
|
|
|
R9002:Kif1b
|
UTSW |
4 |
149,191,255 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9227:Kif1b
|
UTSW |
4 |
149,237,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9231:Kif1b
|
UTSW |
4 |
149,191,195 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9450:Kif1b
|
UTSW |
4 |
149,238,010 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9478:Kif1b
|
UTSW |
4 |
149,261,159 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9571:Kif1b
|
UTSW |
4 |
149,220,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9644:Kif1b
|
UTSW |
4 |
149,291,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF008:Kif1b
|
UTSW |
4 |
149,251,738 (GRCm38) |
splice site |
probably null |
|
|
X0009:Kif1b
|
UTSW |
4 |
149,247,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0062:Kif1b
|
UTSW |
4 |
149,275,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Kif1b
|
UTSW |
4 |
149,266,298 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGGAAGTCAAAGCGC -3'
(R):5'- TTTCACAAGGCCCTAGGTCTG -3'
Sequencing Primer
(F):5'- GATGCTGTCCTGCCTGAGTC -3'
(R):5'- GACTATGTCCCCCAGACTAGTATGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation