Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Amh'

328117

Institutional Source

Beutler Lab

Gene Symbol

Amh

Ensembl Gene

ENSMUSG00000035262

Gene Name

anti-Mullerian hormone

Synonyms

MIS, Mullerian inhibiting substance

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.359) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80641077-80643482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80642755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 313 (D313G)

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: D313G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262
AA Change: D313G

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

Meta Mutation Damage Score

0.4386

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,236,870 (GRCm39)	T1456A	probably damaging	Het
Acad11	T	C	9: 103,950,844 (GRCm39)	F56S	probably damaging	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Ampd2	T	C	3: 107,994,052 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,111,653 (GRCm39)	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cd163	T	C	6: 124,304,862 (GRCm39)	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,480,433 (GRCm39)	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfh	A	T	1: 140,028,613 (GRCm39)	Y688*	probably null	Het
Chrnb1	A	T	11: 69,677,773 (GRCm39)	S326R	probably damaging	Het
Cngb1	C	T	8: 96,026,344 (GRCm39)	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,079,136 (GRCm39)	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,448,800 (GRCm39)		probably benign	Het
Eef1d	C	A	15: 75,774,648 (GRCm39)	S253I	possibly damaging	Het
Efl1	G	A	7: 82,412,491 (GRCm39)	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Epb41l2	C	A	10: 25,382,078 (GRCm39)	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699 (GRCm39)		probably null	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Igkv10-95	A	T	6: 68,657,606 (GRCm39)	I21F	probably damaging	Het
Il10rb	C	A	16: 91,204,603 (GRCm39)	N51K	possibly damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lrig3	T	C	10: 125,849,273 (GRCm39)	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,755,755 (GRCm39)	M510K	probably benign	Het
Nfrkb	G	T	9: 31,311,258 (GRCm39)	C369F	probably damaging	Het
Nphp1	T	C	2: 127,630,719 (GRCm39)	E19G	possibly damaging	Het
Or10a5	A	C	7: 106,635,698 (GRCm39)	E112A	probably damaging	Het
Or4f14b	T	C	2: 111,775,534 (GRCm39)	H89R	probably benign	Het
Ovol3	A	T	7: 29,934,789 (GRCm39)		probably null	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Rims2	T	C	15: 39,301,320 (GRCm39)		probably null	Het
Sh3rf3	T	C	10: 58,919,398 (GRCm39)	V505A	probably benign	Het
Shkbp1	T	C	7: 27,042,727 (GRCm39)	N570S	probably benign	Het
Slc35f4	C	T	14: 49,556,307 (GRCm39)	V149I	possibly damaging	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tagap1	G	A	17: 7,223,511 (GRCm39)	S395L	probably benign	Het
Tcstv2b	C	A	13: 120,373,908 (GRCm39)	L127F	probably damaging	Het
Tek	A	G	4: 94,751,904 (GRCm39)	T1014A	probably damaging	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpo	T	C	12: 30,154,015 (GRCm39)	Y230C	probably damaging	Het
Trav12-2	A	G	14: 53,854,332 (GRCm39)	Q102R	possibly damaging	Het
Ttn	G	A	2: 76,733,430 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,973 (GRCm39)	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,996,861 (GRCm39)	E219G	probably damaging	Het
Vsig8	G	T	1: 172,390,714 (GRCm39)	G254V	probably damaging	Het
Vwa8	A	G	14: 79,320,246 (GRCm39)	I1086V	probably benign	Het
Zfp423	G	A	8: 88,509,601 (GRCm39)	H123Y	probably damaging	Het
Zfp811	A	T	17: 33,016,521 (GRCm39)	C506*	probably null	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
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
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

PCR Primer
(F):5'- ATAGCCTCTTGTGCTCACAG -3'
(R):5'- GCAGATCTACACTCAGCTCG -3'

Sequencing Primer
(F):5'- TTGTGCTCACAGCTGGC -3'
(R):5'- TGCAGCGCCTTTAGCAG -3'

Posted On

2015-07-07