Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Amh'

479538

Institutional Source

Beutler Lab

Gene Symbol

Amh

Ensembl Gene

ENSMUSG00000035262

Gene Name

anti-Mullerian hormone

Synonyms

MIS, Mullerian inhibiting substance

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

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

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80641077-80643482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80641305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 75 (N75S)

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: N75S

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

SMART Domains

Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262
AA Change: N75S

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,137,900 (GRCm39)	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 81,946,940 (GRCm39)	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,582,140 (GRCm39)		probably null	Het
Abcg5	T	G	17: 84,976,392 (GRCm39)	I482L	probably benign	Het
Adgrf5	T	A	17: 43,748,462 (GRCm39)	D44E	probably damaging	Het
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,784,480 (GRCm39)	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,463,878 (GRCm39)	E1449V	probably null	Het
Chml	A	G	1: 175,515,594 (GRCm39)	V109A	probably benign	Het
Crybg3	G	T	16: 59,374,837 (GRCm39)	S2139*	probably null	Het
Cyp2c68	T	C	19: 39,722,780 (GRCm39)	D256G	probably damaging	Het
Dchs2	G	T	3: 83,253,534 (GRCm39)	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,590,736 (GRCm39)	I227V	possibly damaging	Het
Drg2	T	C	11: 60,353,451 (GRCm39)	V266A	possibly damaging	Het
Flcn	C	A	11: 59,683,448 (GRCm39)	E576D	probably benign	Het
Fstl5	T	A	3: 76,317,899 (GRCm39)	D188E	probably damaging	Het
Gm14496	A	G	2: 181,639,323 (GRCm39)	Q471R	probably benign	Het
Gm43772	T	C	5: 66,332,334 (GRCm39)		probably benign	Het
Gpc6	C	T	14: 118,188,673 (GRCm39)	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,226,628 (GRCm39)	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845 (GRCm39)	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,637,969 (GRCm39)	C1050*	probably null	Het
Larp4b	T	C	13: 9,218,793 (GRCm39)	V510A	probably benign	Het
Map3k13	A	T	16: 21,723,933 (GRCm39)	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,472,318 (GRCm39)	I226F	possibly damaging	Het
Mme	G	A	3: 63,250,929 (GRCm39)	W323*	probably null	Het
Mrpl24	A	G	3: 87,829,705 (GRCm39)	Y97C	probably benign	Het
Mslnl	G	A	17: 25,965,749 (GRCm39)	S541N	probably benign	Het
Npepl1	T	C	2: 173,962,850 (GRCm39)	V412A	probably benign	Het
Nrg3	T	A	14: 39,194,409 (GRCm39)	K117*	probably null	Het
Or11j4	G	T	14: 50,630,948 (GRCm39)	C245F	probably damaging	Het
Or4f52	T	C	2: 111,061,275 (GRCm39)	T288A	probably benign	Het
Orc2	A	T	1: 58,506,851 (GRCm39)	M447K	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,629,152 (GRCm39)	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,010,293 (GRCm39)	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,317,957 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slc4a10	A	G	2: 62,099,216 (GRCm39)	M625V	probably benign	Het
Synpo	T	A	18: 60,736,687 (GRCm39)	M420L	probably benign	Het
Tmem116	A	C	5: 121,655,955 (GRCm39)	*147C	probably null	Het
Top2b	G	A	14: 16,423,779 (GRCm38)		probably null	Het
Trp53bp2	T	A	1: 182,283,305 (GRCm39)	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,601,139 (GRCm39)	F896L	probably damaging	Het
Vil1	T	C	1: 74,459,026 (GRCm39)	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,595,316 (GRCm39)	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,289,535 (GRCm39)	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,801,177 (GRCm39)	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,076,064 (GRCm39)	M472V	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp677	A	G	17: 21,617,918 (GRCm39)	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,605,478 (GRCm39)	F407S	probably 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
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
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'- TCCACTGGTACTGCTGCTAG -3'
(R):5'- CAGAGTCCATCACGTACCTTCAG -3'

Sequencing Primer
(F):5'- GCTGCTAGCGACTATGGG -3'
(R):5'- TACCTTCAGCCAGATGTAGGACTAG -3'

Posted On

2017-06-26