Incidental Mutation 'PIT4677001:Ift70a1'
ID |
556540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift70a1
|
Ensembl Gene |
ENSMUSG00000075271 |
Gene Name |
intraflagellar transport 70A1 |
Synonyms |
Ttc30a1, 4930506L13Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
PIT4677001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75810113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 657
(Y657H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097574
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
AlphaFold |
Q99J38 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099994
AA Change: Y657H
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097574 Gene: ENSMUSG00000075271 AA Change: Y657H
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: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
Cfhr2 |
T |
G |
1: 139,733,117 (GRCm39) |
S301R |
unknown |
Het |
Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
Galntl6 |
C |
T |
8: 58,310,621 (GRCm39) |
C360Y |
probably damaging |
Het |
Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
Hnrnpr |
T |
A |
4: 136,056,750 (GRCm39) |
V250D |
probably damaging |
Het |
Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
Mgll |
A |
T |
6: 88,802,663 (GRCm39) |
R273W |
possibly damaging |
Het |
Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,923,835 (GRCm39) |
S240T |
probably benign |
Het |
Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
possibly 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 |
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 |
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'- GCTATCTCATTGAATGAAGGTTCTC -3'
(R):5'- GCCAAGAGATGCTTCCTGTC -3'
Sequencing Primer
(F):5'- TGAAGGTTCTCATCAAGAAAAGC -3'
(R):5'- AGAGATGCTTCCTGTCCTTACTAGAG -3'
|
Posted On |
2019-06-07 |