Incidental Mutation 'R1657:Kif9'
ID |
186471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif9
|
Ensembl Gene |
ENSMUSG00000032489 |
Gene Name |
kinesin family member 9 |
Synonyms |
|
MMRRC Submission |
039693-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R1657 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
110306062-110354242 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110319034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 166
(M166T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
[ENSMUST00000198858]
|
AlphaFold |
Q9WV04 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061155
AA Change: M166T
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057896 Gene: ENSMUSG00000032489 AA Change: M166T
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084952
AA Change: M166T
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082016 Gene: ENSMUSG00000032489 AA Change: M166T
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197248
AA Change: M166T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142734 Gene: ENSMUSG00000032489 AA Change: M166T
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
608 |
6e-19 |
BLAST |
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198043
AA Change: M166T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142689 Gene: ENSMUSG00000032489 AA Change: M166T
Domain | Start | End | E-Value | Type |
KISc
|
4 |
348 |
1.25e-120 |
SMART |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
Blast:KISc
|
372 |
476 |
5e-14 |
BLAST |
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198858
|
SMART Domains |
Protein: ENSMUSP00000142888 Gene: ENSMUSG00000032489
Domain | Start | End | E-Value | Type |
KISc
|
9 |
144 |
6.7e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
G |
11: 84,154,910 (GRCm39) |
D988E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,219,760 (GRCm39) |
V1185A |
probably damaging |
Het |
Amdhd2 |
A |
G |
17: 24,375,029 (GRCm39) |
V391A |
probably damaging |
Het |
Armh4 |
G |
C |
14: 50,011,017 (GRCm39) |
T230S |
probably damaging |
Het |
Caprin1 |
A |
T |
2: 103,599,851 (GRCm39) |
V608E |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,720,151 (GRCm39) |
C2512* |
probably null |
Het |
Cfl1 |
A |
T |
19: 5,543,583 (GRCm39) |
R187W |
probably damaging |
Het |
Cgnl1 |
C |
T |
9: 71,633,226 (GRCm39) |
V42I |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,130,178 (GRCm39) |
Y826H |
probably damaging |
Het |
Col9a2 |
C |
A |
4: 120,898,171 (GRCm39) |
P28T |
unknown |
Het |
Cyp3a44 |
G |
A |
5: 145,716,553 (GRCm39) |
P346S |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,418,252 (GRCm39) |
V151A |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,377 (GRCm39) |
I716T |
probably damaging |
Het |
Entrep1 |
C |
A |
19: 23,952,999 (GRCm39) |
C437F |
probably damaging |
Het |
Esam |
T |
C |
9: 37,448,917 (GRCm39) |
S342P |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,877,518 (GRCm39) |
V1053A |
possibly damaging |
Het |
Grk3 |
A |
G |
5: 113,114,848 (GRCm39) |
F124S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,356,373 (GRCm39) |
|
probably null |
Het |
Hsd3b5 |
T |
A |
3: 98,527,036 (GRCm39) |
I137F |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,632,123 (GRCm39) |
I902F |
probably benign |
Het |
Itsn1 |
G |
T |
16: 91,706,111 (GRCm39) |
C179F |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,146,153 (GRCm39) |
R347H |
probably damaging |
Het |
Kmt5c |
C |
T |
7: 4,749,453 (GRCm39) |
Q324* |
probably null |
Het |
Lcn9 |
G |
A |
2: 25,714,722 (GRCm39) |
E154K |
probably benign |
Het |
Mfge8 |
A |
T |
7: 78,791,521 (GRCm39) |
L227Q |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,960,525 (GRCm39) |
R753* |
probably null |
Het |
Mtif2 |
G |
A |
11: 29,490,721 (GRCm39) |
R475Q |
probably benign |
Het |
Nln |
C |
T |
13: 104,173,455 (GRCm39) |
V584I |
possibly damaging |
Het |
Nr2e3 |
T |
C |
9: 59,856,050 (GRCm39) |
E129G |
probably benign |
Het |
Ocstamp |
T |
C |
2: 165,239,436 (GRCm39) |
D250G |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,722 (GRCm39) |
H131L |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,584 (GRCm39) |
I284T |
possibly damaging |
Het |
Or8k27 |
A |
C |
2: 86,275,562 (GRCm39) |
L255V |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,125,336 (GRCm39) |
I417L |
probably benign |
Het |
Polr1a |
A |
T |
6: 71,918,519 (GRCm39) |
K692N |
probably damaging |
Het |
Qsox2 |
A |
T |
2: 26,110,759 (GRCm39) |
Y152* |
probably null |
Het |
Rpap1 |
T |
C |
2: 119,614,259 (GRCm39) |
D46G |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,320,085 (GRCm39) |
T246A |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,391,446 (GRCm39) |
D82G |
probably damaging |
Het |
Sema3d |
A |
G |
5: 12,634,941 (GRCm39) |
E669G |
possibly damaging |
Het |
Serpinb6c |
T |
C |
13: 34,064,209 (GRCm39) |
N282S |
probably benign |
Het |
Snap47 |
A |
T |
11: 59,319,596 (GRCm39) |
S181T |
probably benign |
Het |
Snx9 |
A |
C |
17: 5,968,711 (GRCm39) |
T336P |
possibly damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,215,123 (GRCm39) |
D284E |
possibly damaging |
Het |
Tmem266 |
C |
T |
9: 55,325,292 (GRCm39) |
A153V |
probably damaging |
Het |
Trappc2b |
T |
C |
11: 51,576,505 (GRCm39) |
Q131R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,573,148 (GRCm39) |
E25915G |
possibly damaging |
Het |
Tubal3 |
A |
G |
13: 3,983,011 (GRCm39) |
T264A |
possibly damaging |
Het |
Vldlr |
G |
A |
19: 27,223,070 (GRCm39) |
R747Q |
probably benign |
Het |
Zc3h8 |
G |
T |
2: 128,771,877 (GRCm39) |
|
probably benign |
Het |
Zfp184 |
C |
T |
13: 22,143,443 (GRCm39) |
T383M |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,346,703 (GRCm39) |
F38S |
possibly damaging |
Het |
Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
Zfp985 |
T |
A |
4: 147,668,567 (GRCm39) |
N478K |
probably benign |
Het |
|
Other mutations in Kif9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01630:Kif9
|
APN |
9 |
110,314,138 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02273:Kif9
|
APN |
9 |
110,339,538 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02818:Kif9
|
APN |
9 |
110,314,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0034:Kif9
|
UTSW |
9 |
110,348,679 (GRCm39) |
missense |
probably benign |
0.23 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0047:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably benign |
0.05 |
R0137:Kif9
|
UTSW |
9 |
110,314,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Kif9
|
UTSW |
9 |
110,340,408 (GRCm39) |
missense |
probably benign |
0.22 |
R1503:Kif9
|
UTSW |
9 |
110,339,506 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1826:Kif9
|
UTSW |
9 |
110,346,701 (GRCm39) |
missense |
probably benign |
0.34 |
R1856:Kif9
|
UTSW |
9 |
110,346,787 (GRCm39) |
missense |
probably null |
1.00 |
R2076:Kif9
|
UTSW |
9 |
110,314,100 (GRCm39) |
splice site |
probably null |
|
R3407:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R4247:Kif9
|
UTSW |
9 |
110,325,027 (GRCm39) |
critical splice donor site |
probably null |
|
R4487:Kif9
|
UTSW |
9 |
110,323,552 (GRCm39) |
missense |
probably null |
1.00 |
R4515:Kif9
|
UTSW |
9 |
110,318,935 (GRCm39) |
missense |
probably benign |
0.38 |
R4880:Kif9
|
UTSW |
9 |
110,330,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R5024:Kif9
|
UTSW |
9 |
110,312,161 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5093:Kif9
|
UTSW |
9 |
110,318,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Kif9
|
UTSW |
9 |
110,350,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Kif9
|
UTSW |
9 |
110,319,012 (GRCm39) |
missense |
probably damaging |
0.99 |
R5379:Kif9
|
UTSW |
9 |
110,350,371 (GRCm39) |
missense |
probably benign |
0.00 |
R5628:Kif9
|
UTSW |
9 |
110,343,621 (GRCm39) |
nonsense |
probably null |
|
R5653:Kif9
|
UTSW |
9 |
110,353,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Kif9
|
UTSW |
9 |
110,339,532 (GRCm39) |
missense |
probably benign |
|
R5758:Kif9
|
UTSW |
9 |
110,318,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5986:Kif9
|
UTSW |
9 |
110,319,094 (GRCm39) |
missense |
probably benign |
0.05 |
R6103:Kif9
|
UTSW |
9 |
110,318,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6247:Kif9
|
UTSW |
9 |
110,317,612 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6255:Kif9
|
UTSW |
9 |
110,346,902 (GRCm39) |
splice site |
probably null |
|
R6991:Kif9
|
UTSW |
9 |
110,323,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7113:Kif9
|
UTSW |
9 |
110,335,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Kif9
|
UTSW |
9 |
110,348,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Kif9
|
UTSW |
9 |
110,350,421 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7892:Kif9
|
UTSW |
9 |
110,343,682 (GRCm39) |
missense |
not run |
|
R8050:Kif9
|
UTSW |
9 |
110,348,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R8370:Kif9
|
UTSW |
9 |
110,317,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Kif9
|
UTSW |
9 |
110,343,487 (GRCm39) |
splice site |
probably null |
|
R8751:Kif9
|
UTSW |
9 |
110,330,724 (GRCm39) |
missense |
probably benign |
0.03 |
R8830:Kif9
|
UTSW |
9 |
110,353,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9519:Kif9
|
UTSW |
9 |
110,350,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R9605:Kif9
|
UTSW |
9 |
110,346,710 (GRCm39) |
missense |
probably benign |
0.01 |
R9776:Kif9
|
UTSW |
9 |
110,350,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAATTCCCGTGCAGGTGTTCAG -3'
(R):5'- TGCCGAGCACATATGAAGCTCTC -3'
Sequencing Primer
(F):5'- GGATGATTGAAGAGCGTCCC -3'
(R):5'- gctctctgctcagtcccc -3'
|
Posted On |
2014-05-09 |