Incidental Mutation 'R0766:Ift70a2'
ID |
69491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift70a2
|
Ensembl Gene |
ENSMUSG00000075272 |
Gene Name |
intraflagellar transport 70A2 |
Synonyms |
Ttc30a2, OTTMUSG00000015167 |
MMRRC Submission |
038946-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0766 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
75806516-75808523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75806676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 612
(V612D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
AlphaFold |
A2AKQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099994
|
SMART Domains |
Protein: ENSMUSP00000097574 Gene: ENSMUSG00000075271
Domain | Start | End | E-Value | Type |
TPR
|
45 |
78 |
1.1e-1 |
SMART |
TPR
|
153 |
186 |
2.19e1 |
SMART |
TPR
|
187 |
220 |
6.24e1 |
SMART |
coiled coil region
|
380 |
411 |
N/A |
INTRINSIC |
TPR
|
423 |
456 |
2.24e1 |
SMART |
Blast:TPR
|
457 |
491 |
1e-10 |
BLAST |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099995
AA Change: V612D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000097575 Gene: ENSMUSG00000075272 AA Change: V612D
Domain | Start | End | E-Value | Type |
TPR
|
45 |
78 |
1.1e-1 |
SMART |
TPR
|
153 |
186 |
2.77e1 |
SMART |
Blast:TPR
|
187 |
224 |
1e-13 |
BLAST |
coiled coil region
|
380 |
405 |
N/A |
INTRINSIC |
TPR
|
423 |
456 |
2.24e1 |
SMART |
Blast:TPR
|
457 |
491 |
1e-10 |
BLAST |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.4%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
A2m |
T |
C |
6: 121,653,849 (GRCm39) |
|
probably benign |
Het |
Card14 |
T |
C |
11: 119,215,002 (GRCm39) |
S241P |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
C |
15: 28,448,633 (GRCm39) |
K4232T |
probably null |
Het |
Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
Esd |
T |
C |
14: 74,979,561 (GRCm39) |
S122P |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,412,122 (GRCm39) |
P4781S |
probably damaging |
Het |
Iqch |
G |
A |
9: 63,389,965 (GRCm39) |
S738L |
probably benign |
Het |
Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,387,861 (GRCm39) |
E1533G |
probably damaging |
Het |
Klrg1 |
T |
C |
6: 122,256,622 (GRCm39) |
M55V |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Otos |
A |
C |
1: 92,573,073 (GRCm39) |
L14R |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
Snai2 |
T |
A |
16: 14,526,111 (GRCm39) |
M254K |
possibly damaging |
Het |
Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tex22 |
A |
G |
12: 113,052,143 (GRCm39) |
N67S |
possibly damaging |
Het |
Trank1 |
T |
G |
9: 111,176,537 (GRCm39) |
S270A |
probably benign |
Het |
Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,862,569 (GRCm39) |
E601G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably damaging |
Het |
|
Other mutations in Ift70a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02724:Ift70a2
|
APN |
2 |
75,806,682 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03269:Ift70a2
|
APN |
2 |
75,808,479 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0011:Ift70a2
|
UTSW |
2 |
75,806,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R0751:Ift70a2
|
UTSW |
2 |
75,808,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R0835:Ift70a2
|
UTSW |
2 |
75,808,494 (GRCm39) |
missense |
probably benign |
|
R1133:Ift70a2
|
UTSW |
2 |
75,807,727 (GRCm39) |
nonsense |
probably null |
|
R1212:Ift70a2
|
UTSW |
2 |
75,806,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R1312:Ift70a2
|
UTSW |
2 |
75,806,676 (GRCm39) |
missense |
probably benign |
0.00 |
R4780:Ift70a2
|
UTSW |
2 |
75,807,920 (GRCm39) |
missense |
probably benign |
0.19 |
R4799:Ift70a2
|
UTSW |
2 |
75,807,729 (GRCm39) |
missense |
probably benign |
0.01 |
R4847:Ift70a2
|
UTSW |
2 |
75,808,058 (GRCm39) |
missense |
probably benign |
0.03 |
R5176:Ift70a2
|
UTSW |
2 |
75,807,421 (GRCm39) |
missense |
probably benign |
|
R5390:Ift70a2
|
UTSW |
2 |
75,807,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5724:Ift70a2
|
UTSW |
2 |
75,808,074 (GRCm39) |
missense |
probably benign |
|
R6975:Ift70a2
|
UTSW |
2 |
75,808,004 (GRCm39) |
nonsense |
probably null |
|
R6975:Ift70a2
|
UTSW |
2 |
75,806,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Ift70a2
|
UTSW |
2 |
75,806,613 (GRCm39) |
nonsense |
probably null |
|
R7234:Ift70a2
|
UTSW |
2 |
75,806,540 (GRCm39) |
nonsense |
probably null |
|
R7246:Ift70a2
|
UTSW |
2 |
75,808,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Ift70a2
|
UTSW |
2 |
75,807,273 (GRCm39) |
missense |
probably benign |
0.04 |
R8073:Ift70a2
|
UTSW |
2 |
75,806,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Ift70a2
|
UTSW |
2 |
75,808,215 (GRCm39) |
missense |
probably benign |
0.09 |
R9278:Ift70a2
|
UTSW |
2 |
75,807,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9454:Ift70a2
|
UTSW |
2 |
75,806,812 (GRCm39) |
missense |
probably benign |
0.05 |
R9694:Ift70a2
|
UTSW |
2 |
75,807,691 (GRCm39) |
missense |
probably benign |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCATTGCAGCAACTGAGGAC -3'
(R):5'- AGGAACCCTGTATTGTGCCAAAGG -3'
Sequencing Primer
(F):5'- CTGTGTCGAGTCGTAAAAATGC -3'
(R):5'- GGAAACTATGACTTTGGCATCTCTC -3'
|
Posted On |
2013-09-30 |