Mutagenetix > Incidental Mutation

Incidental Mutation 'R4159:Amdhd1'

315662

Institutional Source

Beutler Lab

Gene Symbol

Amdhd1

Ensembl Gene

ENSMUSG00000015890

Gene Name

amidohydrolase domain containing 1

Synonyms

1300019J08Rik

MMRRC Submission

041002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4159 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93359200-93375895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93370512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 109 (Y109H)

Ref Sequence

ENSEMBL: ENSMUSP00000016034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016034]

AlphaFold

Q9DBA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000016034
AA Change: Y109H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016034
Gene: ENSMUSG00000015890
AA Change: Y109H

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	78	423	3.6e-21	PFAM
Pfam:Amidohydro_3	107	424	8.5e-17	PFAM

Meta Mutation Damage Score

0.9181

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	G	12: 81,466,806 (GRCm39)	D605A	probably damaging	Het
Adcy1	A	G	11: 7,013,889 (GRCm39)	H97R	probably damaging	Het
Ankhd1	A	G	18: 36,722,593 (GRCm39)	N372S	possibly damaging	Het
Aoc2	G	A	11: 101,216,122 (GRCm39)	M68I	probably damaging	Het
Aspscr1	G	A	11: 120,599,502 (GRCm39)	A377T	probably damaging	Het
Bltp1	T	A	3: 36,985,232 (GRCm39)	M854K	probably benign	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb1	G	C	11: 97,903,100 (GRCm39)	C154W	probably damaging	Het
Ccdc186	G	A	19: 56,781,924 (GRCm39)	R27*	probably null	Het
Clnk	C	A	5: 38,899,138 (GRCm39)		probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Fut8	T	C	12: 77,440,523 (GRCm39)	L170P	probably damaging	Het
G3bp2	T	C	5: 92,212,260 (GRCm39)	H217R	probably benign	Het
Gm19345	G	A	7: 19,588,886 (GRCm39)		probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kcne4	A	G	1: 78,795,819 (GRCm39)	N156D	probably benign	Het
Met	G	T	6: 17,562,271 (GRCm39)		probably null	Het
Mfsd3	T	C	15: 76,585,945 (GRCm39)	L26P	probably damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pde8a	A	G	7: 80,970,407 (GRCm39)	I510V	probably benign	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Phkb	T	A	8: 86,748,162 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,683 (GRCm39)	K1258*	probably null	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slc15a5	G	T	6: 138,049,938 (GRCm39)	T159K	possibly damaging	Het
Slc39a6	A	G	18: 24,730,885 (GRCm39)	V362A	possibly damaging	Het
Spef2	A	T	15: 9,676,407 (GRCm39)	D721E	probably damaging	Het
Sting1	A	T	18: 35,872,272 (GRCm39)	Y77N	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Ttll8	T	C	15: 88,801,444 (GRCm39)	N415D	probably benign	Het
Ube2d2a	A	T	18: 35,903,577 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,036,512 (GRCm39)		probably benign	Het
Ush2a	G	A	1: 188,460,907 (GRCm39)	V2723M	probably damaging	Het
Vmn2r102	T	A	17: 19,898,088 (GRCm39)	C368S	probably damaging	Het
Vmn2r3	G	A	3: 64,194,850 (GRCm39)	Q23*	probably null	Het

Other mutations in Amdhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Amdhd1	APN	10	93,367,430 (GRCm39)	missense	probably benign
IGL02336:Amdhd1	APN	10	93,360,291 (GRCm39)	missense	probably benign	0.23
IGL02538:Amdhd1	APN	10	93,363,108 (GRCm39)	missense	probably damaging	0.99
IGL03162:Amdhd1	APN	10	93,367,337 (GRCm39)	splice site	probably null
R0893:Amdhd1	UTSW	10	93,363,513 (GRCm39)	missense	probably damaging	1.00
R1857:Amdhd1	UTSW	10	93,367,416 (GRCm39)	missense	probably damaging	1.00
R2890:Amdhd1	UTSW	10	93,363,126 (GRCm39)	missense	probably benign	0.02
R4768:Amdhd1	UTSW	10	93,370,346 (GRCm39)	missense	possibly damaging	0.88
R4941:Amdhd1	UTSW	10	93,367,463 (GRCm39)	missense	probably damaging	1.00
R5199:Amdhd1	UTSW	10	93,361,847 (GRCm39)	missense	probably damaging	1.00
R5917:Amdhd1	UTSW	10	93,360,332 (GRCm39)	missense	possibly damaging	0.95
R6831:Amdhd1	UTSW	10	93,363,118 (GRCm39)	missense	probably damaging	0.97
R7100:Amdhd1	UTSW	10	93,372,936 (GRCm39)	splice site	probably null
R7294:Amdhd1	UTSW	10	93,370,301 (GRCm39)	missense	probably benign	0.09
R7638:Amdhd1	UTSW	10	93,370,360 (GRCm39)	nonsense	probably null
R9046:Amdhd1	UTSW	10	93,363,087 (GRCm39)	missense	probably damaging	1.00
R9149:Amdhd1	UTSW	10	93,375,813 (GRCm39)	missense	probably damaging	1.00
R9763:Amdhd1	UTSW	10	93,367,398 (GRCm39)	missense	possibly damaging	0.76
R9779:Amdhd1	UTSW	10	93,370,474 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GTCTCCAGGTTGAGGCCA -3'
(R):5'- GCGTCTTAACCATCTTGTAATATTGAT -3'

Sequencing Primer
(F):5'- TCCAGGTTGAGGCCATATCC -3'
(R):5'- ACAGAGAGATTCCCCTGTAGCTG -3'

Posted On

2015-05-14