Mutagenetix > Incidental Mutation

Incidental Mutation 'R4554:Amh'

341813

Institutional Source

Beutler Lab

Gene Symbol

Amh

Ensembl Gene

ENSMUSG00000035262

Gene Name

anti-Mullerian hormone

Synonyms

MIS, Mullerian inhibiting substance

MMRRC Submission

041596-MU

Accession Numbers

Essential gene?

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

Stock #

R4554 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

80641077-80643482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80642885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 356 (E356D)

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 benign
Transcript: ENSMUST00000036016
AA Change: E356D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262
AA Change: E356D

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

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,949,992 (GRCm39)	A1772V	possibly damaging	Het
Adamts17	A	T	7: 66,677,641 (GRCm39)	E518D	probably damaging	Het
Adgrb3	T	C	1: 25,123,360 (GRCm39)	R1414G	probably damaging	Het
Ahnak	G	A	19: 8,992,294 (GRCm39)	G4526D	probably damaging	Het
Alms1	G	A	6: 85,601,599 (GRCm39)	R2150H	probably benign	Het
Cap2	T	A	13: 46,789,250 (GRCm39)	F152I	probably damaging	Het
Chil3	T	G	3: 106,067,686 (GRCm39)	K160Q	probably benign	Het
Ep300	T	A	15: 81,485,631 (GRCm39)	M206K	unknown	Het
Lsamp	G	C	16: 41,964,438 (GRCm39)	D271H	probably damaging	Het
Marf1	T	C	16: 13,971,841 (GRCm39)		probably benign	Het
Mfsd11	T	G	11: 116,752,406 (GRCm39)	V133G	probably damaging	Het
Ngrn	C	T	7: 79,914,449 (GRCm39)	T200I	possibly damaging	Het
Or8k37	T	A	2: 86,469,123 (GRCm39)	N310Y	possibly damaging	Het
Phf20l1	A	G	15: 66,469,216 (GRCm39)	T117A	probably damaging	Het
Pitpnm1	A	G	19: 4,153,085 (GRCm39)	Q135R	probably benign	Het
Poc5	A	G	13: 96,539,529 (GRCm39)	K357E	probably benign	Het
Rfx8	C	T	1: 39,720,100 (GRCm39)	R325H	probably benign	Het
Rhbdd3	C	T	11: 5,055,946 (GRCm39)	P366L	probably benign	Het
Rtl1	T	C	12: 109,560,762 (GRCm39)	N359S	possibly damaging	Het
Ryr1	T	C	7: 28,804,433 (GRCm39)	T499A	probably benign	Het
Tex2	G	T	11: 106,435,212 (GRCm39)	P738H	unknown	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
Top6bl	T	C	19: 4,699,847 (GRCm39)	Q452R	possibly damaging	Het
Zswim9	T	C	7: 13,011,088 (GRCm39)	N87D	probably benign	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
R4425:Amh	UTSW	10	80,642,755 (GRCm39)	missense	probably damaging	1.00
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'- TAGAGACCCTCACTCGCTTG -3'
(R):5'- CGCAGATCTACACTCAGCTC -3'

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

Posted On

2015-09-24