Incidental Mutation 'R1185:Ift70a1'
| ID |
500182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift70a1
|
| Ensembl Gene |
ENSMUSG00000075271 |
| Gene Name |
intraflagellar transport 70A1 |
| Synonyms |
Ttc30a1, 4930506L13Rik |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75810696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 462
(N462K)
|
| 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: N462K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: N462K
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 96.3%
- 10x: 87.8%
- 20x: 68.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Proser3 |
G |
A |
7: 30,245,572 (GRCm39) |
A144V |
probably benign |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
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 |
|
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 |
|
R4272:Ift70a1
|
UTSW |
2 |
75,810,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2017-12-01 |
Incidental Mutation