Incidental Mutation 'R4272:Ift70a1'
| ID |
322201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift70a1
|
| Ensembl Gene |
ENSMUSG00000075271 |
| Gene Name |
intraflagellar transport 70A1 |
| Synonyms |
Ttc30a1, 4930506L13Rik |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75810818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 422
(Y422H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
| AlphaFold |
Q99J38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099994
AA Change: Y422H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: Y422H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
| 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 |
0.6044 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
probably damaging |
Het |
|
| Other mutations in Ift70a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Ift70a1
|
APN |
2 |
75,812,085 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01140:Ift70a1
|
APN |
2 |
75,810,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01527:Ift70a1
|
APN |
2 |
75,810,860 (GRCm39) |
missense |
probably benign |
|
|
IGL01690:Ift70a1
|
APN |
2 |
75,810,277 (GRCm39) |
missense |
probably benign |
|
|
IGL01916:Ift70a1
|
APN |
2 |
75,811,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02342:Ift70a1
|
APN |
2 |
75,810,976 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02728:Ift70a1
|
APN |
2 |
75,811,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03171:Ift70a1
|
APN |
2 |
75,810,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4677001:Ift70a1
|
UTSW |
2 |
75,810,113 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0781:Ift70a1
|
UTSW |
2 |
75,810,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1110:Ift70a1
|
UTSW |
2 |
75,810,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1185:Ift70a1
|
UTSW |
2 |
75,810,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Ift70a1
|
UTSW |
2 |
75,810,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Ift70a1
|
UTSW |
2 |
75,810,599 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2016:Ift70a1
|
UTSW |
2 |
75,811,801 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2017:Ift70a1
|
UTSW |
2 |
75,811,801 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2020:Ift70a1
|
UTSW |
2 |
75,811,279 (GRCm39) |
missense |
probably benign |
|
|
R3606:Ift70a1
|
UTSW |
2 |
75,811,621 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4600:Ift70a1
|
UTSW |
2 |
75,810,977 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4894:Ift70a1
|
UTSW |
2 |
75,810,088 (GRCm39) |
makesense |
probably null |
|
|
R4996:Ift70a1
|
UTSW |
2 |
75,810,266 (GRCm39) |
missense |
probably benign |
|
|
R5217:Ift70a1
|
UTSW |
2 |
75,811,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:Ift70a1
|
UTSW |
2 |
75,811,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6002:Ift70a1
|
UTSW |
2 |
75,811,121 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6006:Ift70a1
|
UTSW |
2 |
75,811,832 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7316:Ift70a1
|
UTSW |
2 |
75,811,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Ift70a1
|
UTSW |
2 |
75,810,359 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7494:Ift70a1
|
UTSW |
2 |
75,810,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Ift70a1
|
UTSW |
2 |
75,811,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7972:Ift70a1
|
UTSW |
2 |
75,810,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Ift70a1
|
UTSW |
2 |
75,810,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Ift70a1
|
UTSW |
2 |
75,811,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8792:Ift70a1
|
UTSW |
2 |
75,811,898 (GRCm39) |
nonsense |
probably null |
|
|
R8992:Ift70a1
|
UTSW |
2 |
75,810,251 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9145:Ift70a1
|
UTSW |
2 |
75,810,423 (GRCm39) |
nonsense |
probably null |
|
|
R9268:Ift70a1
|
UTSW |
2 |
75,811,279 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTCATAGAAACCAATGGC -3'
(R):5'- GCCCACTTAACTTACAAGTTCC -3'
Sequencing Primer
(F):5'- GCTCATAGAAACCAATGGCCTCTTTG -3'
(R):5'- GGATGCCATGATCACTTGCCAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation