Incidental Mutation 'R8948:Kif11'
| ID |
681489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif11
|
| Ensembl Gene |
ENSMUSG00000012443 |
| Gene Name |
kinesin family member 11 |
| Synonyms |
Eg5, Knsl1, Kifl1 |
| MMRRC Submission |
068786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
37364851-37410307 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37386602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 387
(D387E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012587]
|
| AlphaFold |
Q6P9P6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012587
AA Change: D387E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: D387E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
15 |
366 |
8.21e-180 |
SMART |
|
Blast:KISc
|
372 |
417 |
1e-16 |
BLAST |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
Pfam:Microtub_bind
|
915 |
1049 |
1.2e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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 belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion of Kif11 results in early embryonic lethality of homozygotes, with developmental growth arrest at E3.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,418,805 (GRCm39) |
I102T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
C |
4: 126,244,115 (GRCm39) |
|
probably null |
Het |
| Akap1 |
G |
T |
11: 88,735,099 (GRCm39) |
A75E |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,041,012 (GRCm39) |
A227E |
possibly damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,181,358 (GRCm39) |
E601G |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
| Cdkn3 |
C |
T |
14: 47,004,780 (GRCm39) |
P114L |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,446,527 (GRCm39) |
G352D |
probably damaging |
Het |
| Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
| Ctc1 |
T |
G |
11: 68,917,175 (GRCm39) |
Y110* |
probably null |
Het |
| D630023F18Rik |
T |
A |
1: 65,147,899 (GRCm39) |
N218I |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,728,768 (GRCm39) |
T408A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,134,920 (GRCm39) |
T518A |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,104,005 (GRCm39) |
M84K |
probably damaging |
Het |
| Ergic3 |
T |
C |
2: 155,853,160 (GRCm39) |
V201A |
probably benign |
Het |
| Espn |
C |
A |
4: 152,223,278 (GRCm39) |
W258L |
probably damaging |
Het |
| Gm45337 |
A |
G |
7: 141,697,817 (GRCm39) |
S156P |
unknown |
Het |
| Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 115,009,866 (GRCm39) |
G363D |
probably damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
| Khdc4 |
G |
T |
3: 88,617,219 (GRCm39) |
S506I |
probably damaging |
Het |
| Lrrn2 |
A |
C |
1: 132,866,104 (GRCm39) |
I390L |
probably benign |
Het |
| Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,558,529 (GRCm39) |
R2588K |
unknown |
Het |
| Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,262 (GRCm39) |
I305T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,103,530 (GRCm39) |
I178T |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,729 (GRCm39) |
|
probably benign |
Het |
| Perp |
A |
T |
10: 18,729,326 (GRCm39) |
I86F |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 112,993,511 (GRCm39) |
I149F |
probably damaging |
Het |
| Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,671 (GRCm39) |
S220P |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,286,032 (GRCm39) |
I73F |
possibly damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,868,830 (GRCm39) |
H623L |
possibly damaging |
Het |
| Sap30 |
C |
A |
8: 57,940,456 (GRCm39) |
A49S |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,361,882 (GRCm39) |
R83G |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,246,042 (GRCm39) |
I130N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,743,767 (GRCm39) |
R466Q |
probably damaging |
Het |
| Smgc |
C |
T |
15: 91,722,565 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
T |
5: 37,612,341 (GRCm39) |
N348K |
possibly damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,332,085 (GRCm39) |
V161A |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,925,293 (GRCm39) |
R173H |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
| Vsig10l |
A |
T |
7: 43,117,623 (GRCm39) |
I739F |
possibly damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,594,802 (GRCm39) |
V730G |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
| Zmym4 |
C |
T |
4: 126,758,060 (GRCm39) |
R1498H |
probably damaging |
Het |
| Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
Het |
|
| Other mutations in Kif11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Kif11
|
APN |
19 |
37,399,857 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL00785:Kif11
|
APN |
19 |
37,392,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00785:Kif11
|
APN |
19 |
37,392,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01586:Kif11
|
APN |
19 |
37,372,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL01883:Kif11
|
APN |
19 |
37,372,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02138:Kif11
|
APN |
19 |
37,373,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03197:Kif11
|
APN |
19 |
37,395,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4151001:Kif11
|
UTSW |
19 |
37,373,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Kif11
|
UTSW |
19 |
37,395,431 (GRCm39) |
splice site |
probably benign |
|
|
R0027:Kif11
|
UTSW |
19 |
37,395,431 (GRCm39) |
splice site |
probably benign |
|
|
R0104:Kif11
|
UTSW |
19 |
37,401,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0254:Kif11
|
UTSW |
19 |
37,399,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Kif11
|
UTSW |
19 |
37,401,565 (GRCm39) |
splice site |
probably benign |
|
|
R1607:Kif11
|
UTSW |
19 |
37,375,648 (GRCm39) |
nonsense |
probably null |
|
|
R1895:Kif11
|
UTSW |
19 |
37,375,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Kif11
|
UTSW |
19 |
37,379,224 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2056:Kif11
|
UTSW |
19 |
37,390,660 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2158:Kif11
|
UTSW |
19 |
37,399,062 (GRCm39) |
missense |
probably benign |
|
|
R2291:Kif11
|
UTSW |
19 |
37,395,451 (GRCm39) |
missense |
probably benign |
|
|
R2300:Kif11
|
UTSW |
19 |
37,399,987 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2850:Kif11
|
UTSW |
19 |
37,397,941 (GRCm39) |
missense |
probably benign |
|
|
R2904:Kif11
|
UTSW |
19 |
37,392,103 (GRCm39) |
splice site |
probably benign |
|
|
R3035:Kif11
|
UTSW |
19 |
37,395,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3908:Kif11
|
UTSW |
19 |
37,379,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4319:Kif11
|
UTSW |
19 |
37,373,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4356:Kif11
|
UTSW |
19 |
37,399,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4469:Kif11
|
UTSW |
19 |
37,404,940 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4623:Kif11
|
UTSW |
19 |
37,398,195 (GRCm39) |
missense |
probably benign |
|
|
R4779:Kif11
|
UTSW |
19 |
37,406,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Kif11
|
UTSW |
19 |
37,406,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4980:Kif11
|
UTSW |
19 |
37,375,819 (GRCm39) |
nonsense |
probably null |
|
|
R5109:Kif11
|
UTSW |
19 |
37,373,063 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5770:Kif11
|
UTSW |
19 |
37,379,313 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6023:Kif11
|
UTSW |
19 |
37,379,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6666:Kif11
|
UTSW |
19 |
37,398,214 (GRCm39) |
missense |
probably benign |
|
|
R6755:Kif11
|
UTSW |
19 |
37,398,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6845:Kif11
|
UTSW |
19 |
37,392,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Kif11
|
UTSW |
19 |
37,373,040 (GRCm39) |
nonsense |
probably null |
|
|
R7367:Kif11
|
UTSW |
19 |
37,408,789 (GRCm39) |
missense |
probably benign |
|
|
R7387:Kif11
|
UTSW |
19 |
37,398,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Kif11
|
UTSW |
19 |
37,399,072 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7502:Kif11
|
UTSW |
19 |
37,398,255 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7591:Kif11
|
UTSW |
19 |
37,372,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Kif11
|
UTSW |
19 |
37,400,008 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7809:Kif11
|
UTSW |
19 |
37,373,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Kif11
|
UTSW |
19 |
37,379,095 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8274:Kif11
|
UTSW |
19 |
37,391,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8323:Kif11
|
UTSW |
19 |
37,372,692 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9372:Kif11
|
UTSW |
19 |
37,399,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Kif11
|
UTSW |
19 |
37,401,735 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTACACATGTGATCTCAGCATT -3'
(R):5'- GGTACACAGACATACATGCAGGA -3'
Sequencing Primer
(F):5'- CTCAGCATTTTAAAGGCCGAGACTG -3'
(R):5'- TGGATCTCTAAGTTCAAGGCCAGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation