Incidental Mutation 'R1212:Ift70a2'
| ID |
99426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift70a2
|
| Ensembl Gene |
ENSMUSG00000075272 |
| Gene Name |
intraflagellar transport 70A2 |
| Synonyms |
Ttc30a2, OTTMUSG00000015167 |
| MMRRC Submission |
039281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
75806516-75808523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75806823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 563
(I563N)
|
| 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 damaging
Transcript: ENSMUST00000099995
AA Change: I563N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: I563N
| 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: 98.7%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 82.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
G |
A |
2: 91,599,381 (GRCm39) |
R167H |
possibly damaging |
Het |
| Ankrd50 |
G |
A |
3: 38,509,836 (GRCm39) |
R844C |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,286,784 (GRCm39) |
E42G |
probably benign |
Het |
| Arhgap42 |
T |
A |
9: 9,015,313 (GRCm39) |
I444F |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,951 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,387,728 (GRCm39) |
D393G |
probably damaging |
Het |
| Il25 |
G |
A |
14: 55,170,212 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,046,291 (GRCm39) |
L105P |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,199,902 (GRCm39) |
V1214A |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,039,322 (GRCm39) |
D39G |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,411,581 (GRCm39) |
R601* |
probably null |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,356 (GRCm39) |
R49S |
probably benign |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,210 (GRCm39) |
S111N |
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 |
|
|
R1133:Ift70a2
|
UTSW |
2 |
75,807,727 (GRCm39) |
nonsense |
probably null |
|
|
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'- CCAAGGTGGAAAGGCTGTCATAGTG -3'
(R):5'- CCATGTCCTCTTCATGCAGGAGAAC -3'
Sequencing Primer
(F):5'- TCCAAGGGCTGTTCTATGAC -3'
(R):5'- AACATCCTGAGTGTCAGTGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation