Incidental Mutation 'R5414:Ifit1bl1'
ID |
427665 |
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 |
042983-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5414 (G1)
|
Quality Score |
90 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
34570291-34579356 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34571324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 378
(I378F)
|
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: I378F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108086 Gene: ENSMUSG00000079339 AA Change: I378F
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: I378F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132781 Gene: ENSMUSG00000079339 AA Change: I378F
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 |
0.2529 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
Akt3 |
A |
G |
1: 176,877,817 (GRCm39) |
V317A |
probably damaging |
Het |
Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
Bcat1 |
A |
G |
6: 144,961,173 (GRCm39) |
|
probably null |
Het |
C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
Gbp2b |
T |
C |
3: 142,304,852 (GRCm39) |
L96P |
probably damaging |
Het |
Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pgm5 |
A |
G |
19: 24,686,689 (GRCm39) |
I506T |
probably damaging |
Het |
Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,557,330 (GRCm39) |
S253P |
probably damaging |
Het |
Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
probably damaging |
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 |
|
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 |
R6515:Ifit1bl1
|
UTSW |
19 |
34,571,899 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGGCCCAAGTTTTCCAGGAC -3'
(R):5'- TTCAAACATGCAACCAAGAGGG -3'
Sequencing Primer
(F):5'- GCCCAAGTTTTCCAGGACATGATC -3'
(R):5'- GACCAATCCATCCATTTGGCTATATG -3'
|
Posted On |
2016-09-01 |