Incidental Mutation 'R6624:Iah1'
ID |
524685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iah1
|
Ensembl Gene |
ENSMUSG00000062054 |
Gene Name |
isoamyl acetate-hydrolyzing esterase 1 homolog |
Synonyms |
1500019E20Rik, 4833421E05Rik |
MMRRC Submission |
044746-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6624 (G1)
|
Quality Score |
222.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
21366363-21373608 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 21369785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 100
(Q100*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064536]
[ENSMUST00000067284]
[ENSMUST00000076813]
[ENSMUST00000101551]
[ENSMUST00000127974]
[ENSMUST00000145118]
[ENSMUST00000221693]
[ENSMUST00000223345]
[ENSMUST00000232107]
|
AlphaFold |
Q9DB29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064536
|
SMART Domains |
Protein: ENSMUSP00000067953 Gene: ENSMUSG00000052593
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
28 |
167 |
1.1e-11 |
PFAM |
Pfam:Reprolysin_5
|
221 |
451 |
6.7e-37 |
PFAM |
Pfam:Reprolysin_4
|
221 |
469 |
3.2e-24 |
PFAM |
Pfam:Reprolysin_2
|
244 |
464 |
8.8e-29 |
PFAM |
Pfam:Reprolysin_3
|
248 |
416 |
1.2e-12 |
PFAM |
Pfam:Reprolysin
|
383 |
474 |
3.1e-9 |
PFAM |
DISIN
|
484 |
561 |
6.27e-26 |
SMART |
PDB:2M2F|A
|
581 |
642 |
4e-32 |
PDB |
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
low complexity region
|
739 |
755 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000067284
|
SMART Domains |
Protein: ENSMUSP00000068148 Gene: ENSMUSG00000054309
Domain | Start | End | E-Value | Type |
Lactamase_B
|
24 |
234 |
8.27e-12 |
SMART |
Beta-Casp
|
246 |
367 |
7.32e-45 |
SMART |
Pfam:RMMBL
|
380 |
422 |
9.9e-17 |
PFAM |
CPSF73-100_C
|
477 |
683 |
6.78e-81 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000076813
AA Change: Q100*
|
SMART Domains |
Protein: ENSMUSP00000076090 Gene: ENSMUSG00000062054 AA Change: Q100*
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL
|
18 |
213 |
1.3e-34 |
PFAM |
Pfam:Lipase_GDSL_2
|
19 |
209 |
2.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101551
|
SMART Domains |
Protein: ENSMUSP00000099087 Gene: ENSMUSG00000052593
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
31 |
167 |
9.7e-15 |
PFAM |
Pfam:Reprolysin_5
|
221 |
470 |
5e-34 |
PFAM |
Pfam:Reprolysin_4
|
221 |
488 |
6.1e-20 |
PFAM |
Pfam:Reprolysin_2
|
264 |
483 |
2.6e-34 |
PFAM |
Pfam:Reprolysin_3
|
267 |
435 |
2.8e-14 |
PFAM |
Pfam:Reprolysin
|
330 |
493 |
5.3e-9 |
PFAM |
DISIN
|
503 |
580 |
6.27e-26 |
SMART |
Pfam:ADAM17_MPD
|
600 |
661 |
1e-23 |
PFAM |
transmembrane domain
|
691 |
713 |
N/A |
INTRINSIC |
low complexity region
|
758 |
774 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127974
|
SMART Domains |
Protein: ENSMUSP00000136677 Gene: ENSMUSG00000052593
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
25 |
167 |
9.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145118
|
SMART Domains |
Protein: ENSMUSP00000136407 Gene: ENSMUSG00000052593
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
28 |
167 |
7.5e-12 |
PFAM |
Pfam:Reprolysin_5
|
221 |
451 |
4.2e-37 |
PFAM |
Pfam:Reprolysin_4
|
221 |
469 |
2e-24 |
PFAM |
Pfam:Reprolysin_2
|
244 |
464 |
5.6e-29 |
PFAM |
Pfam:Reprolysin_3
|
248 |
416 |
7.8e-13 |
PFAM |
Pfam:Reprolysin
|
381 |
474 |
2.2e-9 |
PFAM |
DISIN
|
484 |
561 |
6.27e-26 |
SMART |
PDB:2M2F|A
|
581 |
638 |
5e-29 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221693
AA Change: Q101*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222344
AA Change: Q98*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223345
AA Change: Q100*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232107
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
possibly damaging |
Het |
|
Other mutations in Iah1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02082:Iah1
|
APN |
12 |
21,367,405 (GRCm39) |
nonsense |
probably null |
|
IGL02487:Iah1
|
APN |
12 |
21,371,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Iah1
|
UTSW |
12 |
21,366,434 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R4872:Iah1
|
UTSW |
12 |
21,367,426 (GRCm39) |
missense |
probably benign |
0.06 |
R5089:Iah1
|
UTSW |
12 |
21,373,309 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8810:Iah1
|
UTSW |
12 |
21,367,388 (GRCm39) |
missense |
probably benign |
0.30 |
R9006:Iah1
|
UTSW |
12 |
21,367,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9007:Iah1
|
UTSW |
12 |
21,367,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9666:Iah1
|
UTSW |
12 |
21,366,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTTCCCAGTCTGACATAAAAC -3'
(R):5'- CACCTCAGCTGTGATCGATG -3'
Sequencing Primer
(F):5'- AAGATCTCTGAGTTCTAGGCCAGC -3'
(R):5'- TCAGCTGTGATCGATGCCCAC -3'
|
Posted On |
2018-06-22 |