Incidental Mutation 'R4555:Inha'
| ID |
341827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inha
|
| Ensembl Gene |
ENSMUSG00000032968 |
| Gene Name |
inhibin alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R4555 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75483721-75487010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75486227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 174
(P174L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037330]
[ENSMUST00000113565]
[ENSMUST00000113567]
|
| AlphaFold |
Q04997 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037330
AA Change: P174L
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968
AA Change: P174L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
199 |
N/A |
INTRINSIC |
|
TGFB
|
263 |
366 |
1.58e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113565
|
| SMART Domains |
Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
24 |
91 |
1.23e-12 |
SMART |
|
IGc2
|
140 |
216 |
2.33e-13 |
SMART |
|
IGc2
|
258 |
326 |
1.48e-6 |
SMART |
|
IG
|
347 |
427 |
9.49e-5 |
SMART |
|
IG
|
435 |
511 |
1.04e-1 |
SMART |
|
FN3
|
518 |
601 |
6.6e-2 |
SMART |
|
PDB:2E6Q|A
|
608 |
714 |
5e-57 |
PDB |
|
Blast:IG_like
|
622 |
711 |
2e-50 |
BLAST |
|
IG
|
723 |
804 |
3.79e-4 |
SMART |
|
IG
|
814 |
893 |
2.58e-6 |
SMART |
|
IGc2
|
911 |
977 |
1.12e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113567
|
| SMART Domains |
Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
24 |
91 |
1.23e-12 |
SMART |
|
IGc2
|
140 |
216 |
2.33e-13 |
SMART |
|
IGc2
|
258 |
326 |
1.48e-6 |
SMART |
|
IG
|
347 |
427 |
9.49e-5 |
SMART |
|
IG
|
435 |
511 |
1.04e-1 |
SMART |
|
FN3
|
518 |
601 |
6.6e-2 |
SMART |
|
PDB:2E6Q|A
|
608 |
714 |
8e-57 |
PDB |
|
Blast:IG_like
|
622 |
711 |
3e-50 |
BLAST |
|
IG
|
723 |
804 |
3.79e-4 |
SMART |
|
IG
|
814 |
893 |
2.58e-6 |
SMART |
|
IGc2
|
911 |
977 |
1.12e-6 |
SMART |
|
IG
|
996 |
1075 |
1.27e-5 |
SMART |
|
IGc2
|
1094 |
1160 |
4.07e-4 |
SMART |
|
IGc2
|
1186 |
1252 |
9.49e-5 |
SMART |
|
IG
|
1274 |
1353 |
7.41e-7 |
SMART |
|
IG
|
1363 |
1444 |
1.15e-3 |
SMART |
|
IG
|
1454 |
1533 |
8.33e-1 |
SMART |
|
IGc2
|
1549 |
1615 |
8.72e-4 |
SMART |
|
IG
|
1633 |
1712 |
1e-3 |
SMART |
|
IG
|
1723 |
1802 |
3.82e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155084
|
| SMART Domains |
Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1g1ca_
|
2 |
32 |
1e-3 |
SMART |
|
IGc2
|
64 |
132 |
1.48e-6 |
SMART |
|
IG
|
153 |
233 |
9.49e-5 |
SMART |
|
IG
|
241 |
317 |
1.04e-1 |
SMART |
|
FN3
|
324 |
407 |
6.6e-2 |
SMART |
|
PDB:2E6Q|A
|
414 |
520 |
4e-57 |
PDB |
|
Blast:IG_like
|
428 |
517 |
2e-50 |
BLAST |
|
IG
|
529 |
610 |
3.79e-4 |
SMART |
|
IG
|
620 |
699 |
2.58e-6 |
SMART |
|
IGc2
|
717 |
783 |
1.12e-6 |
SMART |
|
IG
|
802 |
881 |
1.27e-5 |
SMART |
|
IGc2
|
900 |
966 |
4.07e-4 |
SMART |
|
IGc2
|
992 |
1058 |
9.49e-5 |
SMART |
|
IG
|
1080 |
1159 |
7.41e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mice in which this gene has been ablated exhibit sex cord-stromal tumors and symptoms that mimic the human cancer cachexia syndrome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
| Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
| Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
| Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
| Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
Het |
|
| Other mutations in Inha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Inha
|
APN |
1 |
75,486,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Inha
|
APN |
1 |
75,486,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Inha
|
APN |
1 |
75,486,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7328:Inha
|
UTSW |
1 |
75,486,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Inha
|
UTSW |
1 |
75,486,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9161:Inha
|
UTSW |
1 |
75,484,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9478:Inha
|
UTSW |
1 |
75,486,562 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9616:Inha
|
UTSW |
1 |
75,486,211 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTATTCCGGCCATCCCAAC -3'
(R):5'- ATTGAGAGCAGCTCGATGGC -3'
Sequencing Primer
(F):5'- TATTCCGGCCATCCCAACACATAC -3'
(R):5'- CAGCTCGATGGCAGAAGGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation