Incidental Mutation 'R6002:Ift70a1'
ID |
478409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift70a1
|
Ensembl Gene |
ENSMUSG00000075271 |
Gene Name |
intraflagellar transport 70A1 |
Synonyms |
Ttc30a1, 4930506L13Rik |
MMRRC Submission |
044181-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R6002 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
75809450-75812311 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75811121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 321
(T321A)
|
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: T321A
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097574 Gene: ENSMUSG00000075271 AA Change: T321A
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: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
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 |
R5721:Ift70a1
|
UTSW |
2 |
75,811,715 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TTGCTTAGTGAGTCTCCTGAGC -3'
(R):5'- CAGCTGAGAAACTTTGAGGTAGC -3'
Sequencing Primer
(F):5'- AGTGAGTCTCCTGAGCTGCTC -3'
(R):5'- TTTGAGGTAGCCCAAGAAACTCTC -3'
|
Posted On |
2017-06-26 |