Incidental Mutation 'R6515:Ifit1bl1'
| ID |
520642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ifit1bl1
|
| Ensembl Gene |
ENSMUSG00000079339 |
| Gene Name |
interferon induced protein with tetratricpeptide repeats 1B like 1 |
| Synonyms |
Gm14446 |
| MMRRC Submission |
044642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6515 (G1)
|
| Quality Score |
144.008 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34570291-34579356 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34571899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 186
(Y186C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112467]
[ENSMUST00000168254]
|
| AlphaFold |
D3Z6F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112467
AA Change: Y186C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108086
Gene: ENSMUSG00000079339
AA Change: Y186C
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
60 |
93 |
3.41e1 |
SMART |
|
TPR
|
100 |
133 |
6.24e1 |
SMART |
|
TPR
|
146 |
179 |
3.69e1 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
TPR
|
249 |
282 |
6.75e1 |
SMART |
|
TPR
|
338 |
371 |
1.64e1 |
SMART |
|
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
|
TPR
|
433 |
466 |
1.08e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168254
AA Change: Y186C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132781
Gene: ENSMUSG00000079339
AA Change: Y186C
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
60 |
93 |
3.41e1 |
SMART |
|
TPR
|
100 |
133 |
6.24e1 |
SMART |
|
TPR
|
146 |
179 |
3.69e1 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
TPR
|
249 |
282 |
6.75e1 |
SMART |
|
TPR
|
338 |
371 |
1.64e1 |
SMART |
|
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
|
TPR
|
433 |
466 |
1.08e1 |
SMART |
|
| Meta Mutation Damage Score |
0.3729 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,592,044 (GRCm39) |
D102G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,084,910 (GRCm39) |
M369K |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,903 (GRCm39) |
K46R |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,171 (GRCm39) |
|
probably null |
Het |
| Cabyr |
A |
G |
18: 12,887,340 (GRCm39) |
S324G |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,423 (GRCm39) |
D1832G |
possibly damaging |
Het |
| Cdk4 |
C |
T |
10: 126,902,052 (GRCm39) |
P256S |
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,309,537 (GRCm39) |
|
probably benign |
Het |
| Cox17 |
C |
A |
16: 38,167,557 (GRCm39) |
A32E |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,884,119 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,723,489 (GRCm39) |
N628I |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,815 (GRCm39) |
C258R |
probably benign |
Het |
| Hbb-bh1 |
T |
C |
7: 103,491,974 (GRCm39) |
D80G |
probably damaging |
Het |
| Hoxb5 |
A |
T |
11: 96,195,908 (GRCm39) |
D252V |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,736,014 (GRCm39) |
D545G |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,662,416 (GRCm39) |
V28E |
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kif19b |
T |
C |
5: 140,480,779 (GRCm39) |
S970P |
possibly damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,462 (GRCm39) |
I257N |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,343,376 (GRCm39) |
H662Y |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,120 (GRCm39) |
K676R |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,086,665 (GRCm39) |
L22R |
probably benign |
Het |
| Oas1f |
T |
C |
5: 120,986,497 (GRCm39) |
V150A |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,467 (GRCm39) |
Y105C |
probably benign |
Het |
| Or4f62 |
T |
C |
2: 111,986,710 (GRCm39) |
L138P |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,364,585 (GRCm39) |
Y45H |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,661,547 (GRCm39) |
S79P |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,657 (GRCm39) |
D1185G |
possibly damaging |
Het |
| Pphln1-ps1 |
G |
A |
16: 13,494,820 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
A |
T |
8: 127,688,682 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rbm44 |
T |
C |
1: 91,092,860 (GRCm39) |
I820T |
probably damaging |
Het |
| Rnf151 |
A |
T |
17: 24,935,391 (GRCm39) |
L180Q |
probably benign |
Het |
| Sec24d |
G |
A |
3: 123,136,719 (GRCm39) |
R484Q |
possibly damaging |
Het |
| Spop |
C |
A |
11: 95,376,761 (GRCm39) |
D271E |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,356,302 (GRCm39) |
E63G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,501,085 (GRCm39) |
T441S |
possibly damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,794,193 (GRCm39) |
F177L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,131 (GRCm39) |
S313T |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,100,584 (GRCm39) |
I1068T |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,845,983 (GRCm39) |
R967G |
probably benign |
Het |
|
| Other mutations in Ifit1bl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4544001:Ifit1bl1
|
UTSW |
19 |
34,571,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0420:Ifit1bl1
|
UTSW |
19 |
34,571,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Ifit1bl1
|
UTSW |
19 |
34,571,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1310:Ifit1bl1
|
UTSW |
19 |
34,571,096 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1483:Ifit1bl1
|
UTSW |
19 |
34,572,041 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1606:Ifit1bl1
|
UTSW |
19 |
34,571,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Ifit1bl1
|
UTSW |
19 |
34,571,260 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1778:Ifit1bl1
|
UTSW |
19 |
34,571,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Ifit1bl1
|
UTSW |
19 |
34,571,741 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2205:Ifit1bl1
|
UTSW |
19 |
34,571,741 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2442:Ifit1bl1
|
UTSW |
19 |
34,572,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2858:Ifit1bl1
|
UTSW |
19 |
34,571,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3422:Ifit1bl1
|
UTSW |
19 |
34,571,350 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4081:Ifit1bl1
|
UTSW |
19 |
34,572,040 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4125:Ifit1bl1
|
UTSW |
19 |
34,572,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4616:Ifit1bl1
|
UTSW |
19 |
34,572,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Ifit1bl1
|
UTSW |
19 |
34,571,721 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Ifit1bl1
|
UTSW |
19 |
34,571,721 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4849:Ifit1bl1
|
UTSW |
19 |
34,572,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Ifit1bl1
|
UTSW |
19 |
34,571,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Ifit1bl1
|
UTSW |
19 |
34,571,481 (GRCm39) |
nonsense |
probably null |
|
|
R5414:Ifit1bl1
|
UTSW |
19 |
34,571,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5561:Ifit1bl1
|
UTSW |
19 |
34,571,197 (GRCm39) |
nonsense |
probably null |
|
|
R5586:Ifit1bl1
|
UTSW |
19 |
34,571,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6345:Ifit1bl1
|
UTSW |
19 |
34,571,570 (GRCm39) |
nonsense |
probably null |
|
|
R6382:Ifit1bl1
|
UTSW |
19 |
34,572,283 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7073:Ifit1bl1
|
UTSW |
19 |
34,576,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7180:Ifit1bl1
|
UTSW |
19 |
34,571,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Ifit1bl1
|
UTSW |
19 |
34,571,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7665:Ifit1bl1
|
UTSW |
19 |
34,572,283 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7724:Ifit1bl1
|
UTSW |
19 |
34,571,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7783:Ifit1bl1
|
UTSW |
19 |
34,571,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7944:Ifit1bl1
|
UTSW |
19 |
34,571,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8251:Ifit1bl1
|
UTSW |
19 |
34,572,232 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8427:Ifit1bl1
|
UTSW |
19 |
34,576,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8474:Ifit1bl1
|
UTSW |
19 |
34,572,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Ifit1bl1
|
UTSW |
19 |
34,571,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9095:Ifit1bl1
|
UTSW |
19 |
34,571,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Ifit1bl1
|
UTSW |
19 |
34,571,908 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9314:Ifit1bl1
|
UTSW |
19 |
34,576,693 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9432:Ifit1bl1
|
UTSW |
19 |
34,571,498 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGGGCAGAGTTTCTTC -3'
(R):5'- ATTACCACAGGGGCAGCTTG -3'
Sequencing Primer
(F):5'- CCTGGGCAGAGTTTCTTCAATGTG -3'
(R):5'- GCAGAAGCCCAGGTCTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation