Incidental Mutation 'R5765:Kif2b'
| ID |
446237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2b
|
| Ensembl Gene |
ENSMUSG00000046755 |
| Gene Name |
kinesin family member 2B |
| Synonyms |
1700063D03Rik |
| MMRRC Submission |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.778)
|
| Stock # |
R5765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
91575315-91577558 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91577242 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 72
(E72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061019]
|
| AlphaFold |
Q8C0N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061019
AA Change: E72K
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: E72K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
176 |
N/A |
INTRINSIC |
|
KISc
|
211 |
549 |
2.34e-134 |
SMART |
|
low complexity region
|
588 |
603 |
N/A |
INTRINSIC |
|
coiled coil region
|
640 |
664 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,153,240 (GRCm38) |
|
probably benign |
Het |
| 4833423E24Rik |
T |
G |
2: 85,484,194 (GRCm38) |
|
probably null |
Het |
| Abcf2 |
T |
C |
5: 24,573,423 (GRCm38) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,052,582 (GRCm38) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 138,226,329 (GRCm38) |
V235I |
probably benign |
Het |
| Caprin2 |
G |
C |
6: 148,843,168 (GRCm38) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,433,883 (GRCm38) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,987,242 (GRCm38) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,529,815 (GRCm38) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,671,733 (GRCm38) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,192,853 (GRCm38) |
I631M |
probably damaging |
Het |
| Doxl2 |
C |
T |
6: 48,978,537 (GRCm38) |
P694S |
probably damaging |
Het |
| Fam117b |
A |
G |
1: 59,970,472 (GRCm38) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,384,996 (GRCm38) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,802,011 (GRCm38) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 99,015,462 (GRCm38) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,161,426 (GRCm38) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,272,443 (GRCm38) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,461,943 (GRCm38) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,666,140 (GRCm38) |
S359P |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,541,029 (GRCm38) |
S188P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,728,642 (GRCm38) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,826,156 (GRCm38) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,863,163 (GRCm38) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,464,726 (GRCm38) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 56,005,298 (GRCm38) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,291,847 (GRCm38) |
V2205D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,457,246 (GRCm38) |
D262G |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,504,165 (GRCm38) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,090,319 (GRCm38) |
R62* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,663,661 (GRCm38) |
T573A |
probably benign |
Het |
| Plin4 |
C |
T |
17: 56,102,470 (GRCm38) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,642,208 (GRCm38) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,236 (GRCm38) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,625,501 (GRCm38) |
T103A |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,429,404 (GRCm38) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 58,992,744 (GRCm38) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,633,627 (GRCm38) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,666,130 (GRCm38) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,685,273 (GRCm38) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,531,350 (GRCm38) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,859,841 (GRCm38) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,758,543 (GRCm38) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 86,919,406 (GRCm38) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,424,095 (GRCm38) |
V26A |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,401,404 (GRCm38) |
C704Y |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 18,947,180 (GRCm38) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,170,527 (GRCm38) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,821,937 (GRCm38) |
Q228* |
probably null |
Het |
|
| Other mutations in Kif2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Kif2b
|
APN |
11 |
91,576,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01459:Kif2b
|
APN |
11 |
91,577,023 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL01468:Kif2b
|
APN |
11 |
91,576,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02897:Kif2b
|
APN |
11 |
91,576,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0076:Kif2b
|
UTSW |
11 |
91,575,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0488:Kif2b
|
UTSW |
11 |
91,576,972 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0524:Kif2b
|
UTSW |
11 |
91,575,724 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0549:Kif2b
|
UTSW |
11 |
91,576,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0893:Kif2b
|
UTSW |
11 |
91,575,594 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1677:Kif2b
|
UTSW |
11 |
91,575,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2025:Kif2b
|
UTSW |
11 |
91,577,346 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2185:Kif2b
|
UTSW |
11 |
91,576,971 (GRCm38) |
frame shift |
probably null |
|
|
R2290:Kif2b
|
UTSW |
11 |
91,575,696 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4697:Kif2b
|
UTSW |
11 |
91,576,846 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4785:Kif2b
|
UTSW |
11 |
91,576,428 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5429:Kif2b
|
UTSW |
11 |
91,577,229 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5555:Kif2b
|
UTSW |
11 |
91,575,460 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5652:Kif2b
|
UTSW |
11 |
91,575,830 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6101:Kif2b
|
UTSW |
11 |
91,575,988 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6105:Kif2b
|
UTSW |
11 |
91,575,988 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6450:Kif2b
|
UTSW |
11 |
91,576,366 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6862:Kif2b
|
UTSW |
11 |
91,575,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7097:Kif2b
|
UTSW |
11 |
91,576,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7189:Kif2b
|
UTSW |
11 |
91,577,137 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7507:Kif2b
|
UTSW |
11 |
91,577,443 (GRCm38) |
missense |
probably benign |
|
|
R7742:Kif2b
|
UTSW |
11 |
91,576,585 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7818:Kif2b
|
UTSW |
11 |
91,576,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7820:Kif2b
|
UTSW |
11 |
91,577,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7946:Kif2b
|
UTSW |
11 |
91,575,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8378:Kif2b
|
UTSW |
11 |
91,576,375 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8442:Kif2b
|
UTSW |
11 |
91,576,314 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8925:Kif2b
|
UTSW |
11 |
91,577,197 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8927:Kif2b
|
UTSW |
11 |
91,577,197 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8969:Kif2b
|
UTSW |
11 |
91,577,193 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9002:Kif2b
|
UTSW |
11 |
91,576,227 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9028:Kif2b
|
UTSW |
11 |
91,577,185 (GRCm38) |
missense |
probably benign |
|
|
R9039:Kif2b
|
UTSW |
11 |
91,576,305 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9063:Kif2b
|
UTSW |
11 |
91,575,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9114:Kif2b
|
UTSW |
11 |
91,575,712 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9279:Kif2b
|
UTSW |
11 |
91,577,149 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Kif2b
|
UTSW |
11 |
91,576,264 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAGGGTTTGGCTGTCC -3'
(R):5'- GTAACTCCACTCACCATGGC -3'
Sequencing Primer
(F):5'- TTGGCTGTCCCCTGAGG -3'
(R):5'- TGGCCAGCCAGTTCTGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation