Incidental Mutation 'R0524:Kif2b'
| ID |
48794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2b
|
| Ensembl Gene |
ENSMUSG00000046755 |
| Gene Name |
kinesin family member 2B |
| Synonyms |
1700063D03Rik |
| MMRRC Submission |
038717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.756)
|
| Stock # |
R0524 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
91466141-91468384 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91466550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 578
(R578G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061019]
|
| AlphaFold |
Q8C0N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061019
AA Change: R578G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058084
Gene: ENSMUSG00000046755
AA Change: R578G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,949,013 (GRCm39) |
E216G |
probably benign |
Het |
| Aoc3 |
C |
A |
11: 101,228,337 (GRCm39) |
P715T |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,157,140 (GRCm39) |
D33G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,308,903 (GRCm39) |
H1701R |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,531,082 (GRCm39) |
H756L |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,675,154 (GRCm39) |
W159R |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,749,574 (GRCm39) |
I252N |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,112,317 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Fam111a |
T |
A |
19: 12,565,412 (GRCm39) |
I431K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,334,133 (GRCm39) |
D1020E |
probably benign |
Het |
| Flii |
A |
G |
11: 60,610,887 (GRCm39) |
V514A |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,283,774 (GRCm39) |
D865G |
probably benign |
Het |
| Frmpd1 |
G |
A |
4: 45,256,902 (GRCm39) |
V157M |
probably damaging |
Het |
| Gsr |
G |
A |
8: 34,159,208 (GRCm39) |
|
probably null |
Het |
| H1f11-ps |
T |
A |
19: 47,158,933 (GRCm39) |
K214M |
unknown |
Het |
| Hps3 |
A |
T |
3: 20,066,940 (GRCm39) |
V542E |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,234,270 (GRCm39) |
I15T |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,361,571 (GRCm39) |
R676G |
possibly damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,692,302 (GRCm39) |
F94S |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,146,477 (GRCm39) |
V103M |
possibly damaging |
Het |
| Nmt2 |
T |
A |
2: 3,306,474 (GRCm39) |
W69R |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,190,605 (GRCm39) |
Q1130K |
possibly damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,384 (GRCm39) |
S150P |
probably damaging |
Het |
| Or2g1 |
A |
T |
17: 38,106,496 (GRCm39) |
K54* |
probably null |
Het |
| Or5b116 |
A |
G |
19: 13,423,228 (GRCm39) |
N284S |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,238,556 (GRCm39) |
W1310R |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,091 (GRCm39) |
Q408R |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,488 (GRCm39) |
I700V |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pnpla8 |
C |
T |
12: 44,330,401 (GRCm39) |
Q318* |
probably null |
Het |
| Ppp1cc |
C |
T |
5: 122,310,833 (GRCm39) |
R142* |
probably null |
Het |
| Pygl |
T |
A |
12: 70,254,498 (GRCm39) |
N149I |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,581,110 (GRCm39) |
S1285T |
probably benign |
Het |
| Rdh13 |
A |
C |
7: 4,447,296 (GRCm39) |
C10W |
probably damaging |
Het |
| Rgr |
A |
T |
14: 36,760,252 (GRCm39) |
C273S |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,556,487 (GRCm39) |
Y22* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,222,215 (GRCm39) |
W302* |
probably null |
Het |
| Smarce1 |
G |
A |
11: 99,104,888 (GRCm39) |
T263M |
probably damaging |
Het |
| Sypl1 |
C |
T |
12: 33,017,564 (GRCm39) |
P94L |
possibly damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,924 (GRCm39) |
I878T |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,937 (GRCm39) |
S87P |
probably damaging |
Het |
| Tmem260 |
A |
G |
14: 48,709,935 (GRCm39) |
T163A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,555,796 (GRCm39) |
Y30403C |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,927,904 (GRCm39) |
M468K |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,081,717 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,719 (GRCm39) |
F243S |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,229,764 (GRCm39) |
Y45C |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,674,424 (GRCm39) |
D119G |
unknown |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kif2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Kif2b
|
APN |
11 |
91,467,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Kif2b
|
APN |
11 |
91,467,849 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01468:Kif2b
|
APN |
11 |
91,467,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Kif2b
|
APN |
11 |
91,467,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Kif2b
|
UTSW |
11 |
91,466,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Kif2b
|
UTSW |
11 |
91,467,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0549:Kif2b
|
UTSW |
11 |
91,467,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Kif2b
|
UTSW |
11 |
91,466,420 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1677:Kif2b
|
UTSW |
11 |
91,466,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Kif2b
|
UTSW |
11 |
91,468,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2185:Kif2b
|
UTSW |
11 |
91,467,797 (GRCm39) |
frame shift |
probably null |
|
|
R2290:Kif2b
|
UTSW |
11 |
91,466,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4697:Kif2b
|
UTSW |
11 |
91,467,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4785:Kif2b
|
UTSW |
11 |
91,467,254 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5429:Kif2b
|
UTSW |
11 |
91,468,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5555:Kif2b
|
UTSW |
11 |
91,466,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5652:Kif2b
|
UTSW |
11 |
91,466,656 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5765:Kif2b
|
UTSW |
11 |
91,468,068 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6101:Kif2b
|
UTSW |
11 |
91,466,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6105:Kif2b
|
UTSW |
11 |
91,466,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6450:Kif2b
|
UTSW |
11 |
91,467,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6862:Kif2b
|
UTSW |
11 |
91,466,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Kif2b
|
UTSW |
11 |
91,467,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7189:Kif2b
|
UTSW |
11 |
91,467,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7507:Kif2b
|
UTSW |
11 |
91,468,269 (GRCm39) |
missense |
probably benign |
|
|
R7742:Kif2b
|
UTSW |
11 |
91,467,411 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7818:Kif2b
|
UTSW |
11 |
91,466,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Kif2b
|
UTSW |
11 |
91,468,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7946:Kif2b
|
UTSW |
11 |
91,466,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8378:Kif2b
|
UTSW |
11 |
91,467,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8442:Kif2b
|
UTSW |
11 |
91,467,140 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8925:Kif2b
|
UTSW |
11 |
91,468,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8927:Kif2b
|
UTSW |
11 |
91,468,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Kif2b
|
UTSW |
11 |
91,468,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9002:Kif2b
|
UTSW |
11 |
91,467,053 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9028:Kif2b
|
UTSW |
11 |
91,468,011 (GRCm39) |
missense |
probably benign |
|
|
R9039:Kif2b
|
UTSW |
11 |
91,467,131 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9063:Kif2b
|
UTSW |
11 |
91,466,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Kif2b
|
UTSW |
11 |
91,466,538 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9279:Kif2b
|
UTSW |
11 |
91,467,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Kif2b
|
UTSW |
11 |
91,467,090 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACCGATTTTCTGCTCCAAAAC -3'
(R):5'- AGCAAACTCACGCAGGTGCTAC -3'
Sequencing Primer
(F):5'- GATTTTCTGCTCCAAAACAGACAAAG -3'
(R):5'- GGATTCCTTCATAGGGCAGAACTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation