Incidental Mutation 'IGL02026:Amh'
| ID |
184177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amh
|
| Ensembl Gene |
ENSMUSG00000035262 |
| Gene Name |
anti-Mullerian hormone |
| Synonyms |
MIS, Mullerian inhibiting substance |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.359)
|
| Stock # |
IGL02026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80641077-80643482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80641242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 54
(L54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020435]
[ENSMUST00000036016]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000151928]
[ENSMUST00000180438]
[ENSMUST00000181039]
[ENSMUST00000181945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020435
|
| SMART Domains |
Protein: ENSMUSP00000020435
Gene: ENSMUSG00000020216
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
77 |
N/A |
INTRINSIC |
|
Pfam:JSRP
|
79 |
138 |
1e-29 |
PFAM |
|
low complexity region
|
145 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036016
AA Change: L54P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262
AA Change: L54P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
Pfam:AMH_N
|
75 |
439 |
3e-133 |
PFAM |
|
TGFB
|
456 |
554 |
8.57e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147440
|
| SMART Domains |
Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
Blast:CactinC_cactus
|
41 |
67 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148665
|
| SMART Domains |
Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
|
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
|
CactinC_cactus
|
91 |
219 |
8.29e-35 |
SMART |
|
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151928
|
| SMART Domains |
Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
|
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
|
CactinC_cactus
|
91 |
194 |
1.26e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180438
|
| SMART Domains |
Protein: ENSMUSP00000137701
Gene: ENSMUSG00000020216
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
48 |
N/A |
INTRINSIC |
|
Pfam:JSRP
|
49 |
78 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181039
|
| SMART Domains |
Protein: ENSMUSP00000137666
Gene: ENSMUSG00000020216
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
117 |
N/A |
INTRINSIC |
|
Pfam:JSRP
|
118 |
179 |
1e-31 |
PFAM |
|
low complexity region
|
185 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181945
|
| SMART Domains |
Protein: ENSMUSP00000137960
Gene: ENSMUSG00000020216
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Homozygous knockout male mice develop female reproductive organs and are often sterile, while homozygous knockout female mice exhibit premature depletion of primordial follicles. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mutant males have a complete male reproductive tract and functional sperm, but also uterus and oviducts. Most are infertile due to female organs blocking sperm transfer. Females are fertile with enlarged ovaries and atypical follicles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,251 (GRCm39) |
V237E |
possibly damaging |
Het |
| Aoc3 |
T |
C |
11: 101,228,421 (GRCm39) |
S743P |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,342,407 (GRCm39) |
W19R |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,353,717 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
C |
11: 106,095,853 (GRCm39) |
E281G |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,797,097 (GRCm39) |
K1650N |
probably damaging |
Het |
| Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
| Evi2b |
T |
C |
11: 79,406,613 (GRCm39) |
S321G |
probably damaging |
Het |
| Fancm |
T |
G |
12: 65,152,508 (GRCm39) |
V988G |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,241 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,699,342 (GRCm39) |
V530A |
probably benign |
Het |
| Gm5885 |
T |
C |
6: 133,508,291 (GRCm39) |
|
noncoding transcript |
Het |
| Hlcs |
A |
T |
16: 93,935,564 (GRCm39) |
I576N |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,444,587 (GRCm39) |
F240L |
probably damaging |
Het |
| Itgb6 |
C |
A |
2: 60,458,410 (GRCm39) |
V448F |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,116,287 (GRCm39) |
T2385A |
possibly damaging |
Het |
| Lamc2 |
C |
T |
1: 153,020,482 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,231 (GRCm39) |
N312S |
probably damaging |
Het |
| Ltbp4 |
G |
A |
7: 27,026,842 (GRCm39) |
R468* |
probably null |
Het |
| Man1a |
T |
C |
10: 53,890,569 (GRCm39) |
E373G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,461,505 (GRCm39) |
Q250L |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,245 (GRCm39) |
V2077A |
probably damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,298 (GRCm39) |
|
probably benign |
Het |
| Otud5 |
C |
T |
X: 7,738,232 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,260,772 (GRCm39) |
S332G |
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,170,869 (GRCm39) |
V549A |
probably damaging |
Het |
| Pgap1 |
A |
T |
1: 54,533,978 (GRCm39) |
M645K |
probably benign |
Het |
| Pm20d1 |
A |
T |
1: 131,729,497 (GRCm39) |
R175* |
probably null |
Het |
| Polr2b |
A |
G |
5: 77,480,099 (GRCm39) |
N585S |
probably benign |
Het |
| Recql |
T |
A |
6: 142,312,394 (GRCm39) |
K41* |
probably null |
Het |
| Sccpdh |
A |
T |
1: 179,505,634 (GRCm39) |
H138L |
possibly damaging |
Het |
| Sec31a |
A |
T |
5: 100,517,485 (GRCm39) |
S951T |
probably benign |
Het |
| Slc44a4 |
A |
T |
17: 35,140,832 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
G |
T |
3: 93,377,862 (GRCm39) |
A189S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,203,658 (GRCm39) |
|
probably benign |
Het |
| Tesl2 |
T |
G |
X: 23,824,233 (GRCm39) |
H314P |
probably damaging |
Het |
| Trbv12-1 |
A |
G |
6: 41,090,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,910,127 (GRCm39) |
S757T |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,298,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
G |
A |
7: 5,886,649 (GRCm39) |
P298L |
possibly damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,432 (GRCm39) |
S59P |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,447 (GRCm39) |
V145D |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,815,257 (GRCm39) |
N1586I |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,403,726 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,772,164 (GRCm39) |
M1707K |
probably benign |
Het |
|
| Other mutations in Amh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0553:Amh
|
UTSW |
10 |
80,642,010 (GRCm39) |
unclassified |
probably benign |
|
|
R1195:Amh
|
UTSW |
10 |
80,641,419 (GRCm39) |
frame shift |
probably null |
|
|
R1195:Amh
|
UTSW |
10 |
80,641,419 (GRCm39) |
frame shift |
probably null |
|
|
R1750:Amh
|
UTSW |
10 |
80,641,419 (GRCm39) |
frame shift |
probably null |
|
|
R1765:Amh
|
UTSW |
10 |
80,641,419 (GRCm39) |
frame shift |
probably null |
|
|
R1974:Amh
|
UTSW |
10 |
80,642,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1998:Amh
|
UTSW |
10 |
80,641,419 (GRCm39) |
frame shift |
probably null |
|
|
R4425:Amh
|
UTSW |
10 |
80,642,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4554:Amh
|
UTSW |
10 |
80,642,885 (GRCm39) |
missense |
probably benign |
|
|
R6007:Amh
|
UTSW |
10 |
80,641,305 (GRCm39) |
missense |
probably benign |
|
|
R6989:Amh
|
UTSW |
10 |
80,641,338 (GRCm39) |
missense |
probably benign |
|
|
R7257:Amh
|
UTSW |
10 |
80,642,487 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7722:Amh
|
UTSW |
10 |
80,642,458 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8398:Amh
|
UTSW |
10 |
80,641,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9042:Amh
|
UTSW |
10 |
80,642,443 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Amh
|
UTSW |
10 |
80,643,420 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-05-07 |
Incidental Mutation