Incidental Mutation 'R5721:Ift70a1'
| ID |
451429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift70a1
|
| Ensembl Gene |
ENSMUSG00000075271 |
| Gene Name |
intraflagellar transport 70A1 |
| Synonyms |
Ttc30a1, 4930506L13Rik |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75811715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 123
(Y123N)
|
| 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: Y123N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: Y123N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
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 |
|
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 |
|
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'- TTGTAGGAAAGGTCAGGCTG -3'
(R):5'- TGCTGGCCTACTGCTACTAC -3'
Sequencing Primer
(F):5'- TGGTAGCCAGAAGCCTGCAG -3'
(R):5'- TACTACCGCCTGCAGGAGTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation