Incidental Mutation 'R1195:Amh'
ID |
500181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Amh
|
Ensembl Gene |
ENSMUSG00000035262 |
Gene Name |
anti-Mullerian hormone |
Synonyms |
MIS, Mullerian inhibiting substance |
MMRRC Submission |
039267-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.359)
|
Stock # |
R1195 (G1)
|
Quality Score |
121 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80641077-80643482 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AGCGCCTTGG to AG
at 80641419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043153
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020435]
[ENSMUST00000036016]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000151928]
[ENSMUST00000181039]
[ENSMUST00000181945]
[ENSMUST00000180438]
|
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 null
Transcript: ENSMUST00000036016
|
SMART Domains |
Protein: ENSMUSP00000043153 Gene: ENSMUSG00000035262
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: 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 |
|
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 |
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 81.3%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly damaging |
Het |
|
Other mutations in Amh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02026:Amh
|
APN |
10 |
80,641,242 (GRCm39) |
missense |
probably damaging |
0.98 |
R0553:Amh
|
UTSW |
10 |
80,642,010 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |