Incidental Mutation 'R1133:Ift70a2'
| ID |
94513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift70a2
|
| Ensembl Gene |
ENSMUSG00000075272 |
| Gene Name |
intraflagellar transport 70A2 |
| Synonyms |
Ttc30a2, OTTMUSG00000015167 |
| MMRRC Submission |
039206-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1133 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75806516-75808523 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 75807727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 262
(Q262*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099994]
[ENSMUST00000099995]
|
| AlphaFold |
A2AKQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099994
|
| SMART Domains |
Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
| 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 null
Transcript: ENSMUST00000099995
AA Change: Q262*
|
| SMART Domains |
Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: Q262*
| 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: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 8 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahr |
A |
G |
12: 35,576,805 (GRCm39) |
L42P |
probably damaging |
Het |
| B430305J03Rik |
C |
T |
3: 61,271,430 (GRCm39) |
W105* |
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,825,683 (GRCm39) |
N633K |
probably benign |
Het |
| Hook2 |
T |
C |
8: 85,722,433 (GRCm39) |
L324P |
probably damaging |
Het |
| Or8b3 |
A |
T |
9: 38,315,027 (GRCm39) |
M283L |
probably benign |
Het |
| Socs4 |
A |
G |
14: 47,527,651 (GRCm39) |
I195M |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,299,044 (GRCm39) |
I1014T |
possibly damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
|
| Other mutations in Ift70a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02724:Ift70a2
|
APN |
2 |
75,806,682 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03269:Ift70a2
|
APN |
2 |
75,808,479 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0011:Ift70a2
|
UTSW |
2 |
75,806,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Ift70a2
|
UTSW |
2 |
75,808,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0766:Ift70a2
|
UTSW |
2 |
75,806,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0835:Ift70a2
|
UTSW |
2 |
75,808,494 (GRCm39) |
missense |
probably benign |
|
|
R1212:Ift70a2
|
UTSW |
2 |
75,806,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Ift70a2
|
UTSW |
2 |
75,806,676 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4780:Ift70a2
|
UTSW |
2 |
75,807,920 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4799:Ift70a2
|
UTSW |
2 |
75,807,729 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4847:Ift70a2
|
UTSW |
2 |
75,808,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5176:Ift70a2
|
UTSW |
2 |
75,807,421 (GRCm39) |
missense |
probably benign |
|
|
R5390:Ift70a2
|
UTSW |
2 |
75,807,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Ift70a2
|
UTSW |
2 |
75,808,074 (GRCm39) |
missense |
probably benign |
|
|
R6975:Ift70a2
|
UTSW |
2 |
75,808,004 (GRCm39) |
nonsense |
probably null |
|
|
R6975:Ift70a2
|
UTSW |
2 |
75,806,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Ift70a2
|
UTSW |
2 |
75,806,613 (GRCm39) |
nonsense |
probably null |
|
|
R7234:Ift70a2
|
UTSW |
2 |
75,806,540 (GRCm39) |
nonsense |
probably null |
|
|
R7246:Ift70a2
|
UTSW |
2 |
75,808,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Ift70a2
|
UTSW |
2 |
75,807,273 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8073:Ift70a2
|
UTSW |
2 |
75,806,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Ift70a2
|
UTSW |
2 |
75,808,215 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9278:Ift70a2
|
UTSW |
2 |
75,807,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Ift70a2
|
UTSW |
2 |
75,806,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9694:Ift70a2
|
UTSW |
2 |
75,807,691 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCATTTTCTGCCAGGACATC -3'
(R):5'- TCATTGAGCGTGGCATCCGTCAAC -3'
Sequencing Primer
(F):5'- AGCAGGTTGCCAAAGGTCTC -3'
(R):5'- ACACCCAGAACTCGGTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation