Mutagenetix > Incidental Mutation

Incidental Mutation 'R0619:Amdhd2'

58562

Institutional Source

Beutler Lab

Gene Symbol

Amdhd2

Ensembl Gene

ENSMUSG00000036820

Gene Name

amidohydrolase domain containing 2

Synonyms

5730457F11Rik

MMRRC Submission

038808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0619 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

24374807-24382740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24375562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 375 (D375G)

Ref Sequence

ENSEMBL: ENSMUSP00000036141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040735] [ENSMUST00000129523]

AlphaFold

Q8JZV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040735
AA Change: D375G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
AA Change: D375G

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	62	401	7.2e-18	PFAM
Pfam:Amidohydro_3	327	404	5.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129523

SMART Domains

Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	1	71	1.5e-7	PFAM
Pfam:Amidohydro_4	22	176	2.5e-9	PFAM
Pfam:Amidohydro_1	27	134	2.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132944

Predicted Effect

unknown
Transcript: ENSMUST00000138685
AA Change: D50G

SMART Domains

Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820
AA Change: D50G

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	5	57	1.1e-7	PFAM

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,339,739 (GRCm39)	D74N	probably benign	Het
Adgre4	T	A	17: 56,127,679 (GRCm39)	V573D	possibly damaging	Het
Ak7	A	G	12: 105,699,770 (GRCm39)	K230E	probably damaging	Het
Anpep	T	C	7: 79,490,757 (GRCm39)	E253G	probably benign	Het
Bbs7	A	G	3: 36,661,725 (GRCm39)	L158S	probably benign	Het
Bdp1	T	C	13: 100,174,366 (GRCm39)	T2057A	probably benign	Het
C2	G	T	17: 35,091,479 (GRCm39)	H61Q	probably damaging	Het
Ccdc18	A	G	5: 108,328,282 (GRCm39)	K661E	probably benign	Het
Cdh23	C	T	10: 60,269,556 (GRCm39)	V655I	probably damaging	Het
Cep78	T	C	19: 15,956,226 (GRCm39)	T238A	probably damaging	Het
Ces2a	T	A	8: 105,462,742 (GRCm39)	N110K	probably benign	Het
Crat	T	C	2: 30,299,996 (GRCm39)	D128G	probably benign	Het
Dclre1a	A	T	19: 56,533,841 (GRCm39)	M233K	probably benign	Het
Dsg4	T	C	18: 20,594,416 (GRCm39)	V515A	probably benign	Het
Fer1l6	T	C	15: 58,534,784 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,226,074 (GRCm39)	D1863G	probably benign	Het
Fsip2	T	A	2: 82,774,484 (GRCm39)	L57Q	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Iqsec1	T	C	6: 90,647,388 (GRCm39)		probably null	Het
Kcnn3	A	C	3: 89,559,337 (GRCm39)	T536P	probably damaging	Het
Kctd3	T	C	1: 188,710,840 (GRCm39)	D441G	probably damaging	Het
Kifc3	G	A	8: 95,829,293 (GRCm39)	T528M	probably benign	Het
Kmt2c	G	A	5: 25,503,914 (GRCm39)	T3798I	probably benign	Het
Map1a	T	A	2: 121,135,736 (GRCm39)	M1946K	probably damaging	Het
Mfhas1	T	A	8: 36,057,829 (GRCm39)	V768E	probably benign	Het
Mroh8	C	A	2: 157,107,001 (GRCm39)	V223F	possibly damaging	Het
Mss51	A	T	14: 20,537,641 (GRCm39)	V30E	probably benign	Het
Mtmr10	G	A	7: 63,970,961 (GRCm39)	R392H	probably benign	Het
Mup3	T	C	4: 62,004,198 (GRCm39)	N105S	probably benign	Het
Myh7b	T	C	2: 155,453,642 (GRCm39)	M22T	probably benign	Het
Or1o2	T	A	17: 37,543,046 (GRCm39)	I72F	possibly damaging	Het
Or2aj5	T	A	16: 19,425,022 (GRCm39)	Y132F	probably damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Os9	A	G	10: 126,956,860 (GRCm39)	I43T	probably damaging	Het
Pkhd1l1	T	C	15: 44,347,234 (GRCm39)	L200P	probably damaging	Het
Ptpru	C	T	4: 131,548,198 (GRCm39)	V100M	possibly damaging	Het
Rnf6	G	A	5: 146,147,531 (GRCm39)	R496C	possibly damaging	Het
Rsad1	C	T	11: 94,433,465 (GRCm39)	R407Q	probably damaging	Het
Rspo3	T	C	10: 29,380,633 (GRCm39)	D127G	probably damaging	Het
Sbf2	T	A	7: 109,909,469 (GRCm39)	T1760S	possibly damaging	Het
Sh2d3c	T	A	2: 32,643,037 (GRCm39)	V588E	probably damaging	Het
Siglech	A	T	7: 55,418,910 (GRCm39)	T238S	probably benign	Het
Slc15a2	T	A	16: 36,579,669 (GRCm39)	N328I	probably damaging	Het
Slc16a11	G	T	11: 70,105,858 (GRCm39)	G94C	probably damaging	Het
Stub1	T	C	17: 26,050,296 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,318,483 (GRCm39)	V40D	probably damaging	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Trappc14	A	G	5: 138,262,088 (GRCm39)		probably benign	Het
Tsen54	A	G	11: 115,705,890 (GRCm39)	E69G	probably damaging	Het
Tsks	A	G	7: 44,600,258 (GRCm39)	E150G	probably damaging	Het
Ubap2l	A	C	3: 89,924,527 (GRCm39)	V680G	probably benign	Het
Usp16	A	T	16: 87,269,052 (GRCm39)	H315L	probably benign	Het
Vav2	A	G	2: 27,186,133 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,256,715 (GRCm39)	F1562L	possibly damaging	Het
Zfp764	C	A	7: 127,005,713 (GRCm39)	V22L	probably benign	Het

Other mutations in Amdhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01546:Amdhd2	APN	17	24,382,574 (GRCm39)	missense	probably benign	0.38
IGL01868:Amdhd2	APN	17	24,376,504 (GRCm39)	missense	probably damaging	1.00
IGL02889:Amdhd2	APN	17	24,376,761 (GRCm39)	missense	probably damaging	1.00
IGL03127:Amdhd2	APN	17	24,376,712 (GRCm39)	critical splice donor site	probably null
R0759:Amdhd2	UTSW	17	24,380,587 (GRCm39)	missense	probably benign	0.02
R0970:Amdhd2	UTSW	17	24,375,544 (GRCm39)	critical splice donor site	probably null
R1657:Amdhd2	UTSW	17	24,375,029 (GRCm39)	missense	probably damaging	1.00
R1929:Amdhd2	UTSW	17	24,376,860 (GRCm39)	splice site	probably null
R2080:Amdhd2	UTSW	17	24,375,578 (GRCm39)	missense	probably benign	0.00
R2127:Amdhd2	UTSW	17	24,377,282 (GRCm39)	critical splice donor site	probably null
R2871:Amdhd2	UTSW	17	24,376,829 (GRCm39)	unclassified	probably benign
R4419:Amdhd2	UTSW	17	24,377,652 (GRCm39)	missense	probably benign	0.31
R5681:Amdhd2	UTSW	17	24,375,014 (GRCm39)	missense	probably damaging	1.00
R6315:Amdhd2	UTSW	17	24,377,330 (GRCm39)	missense	probably benign	0.00
R6413:Amdhd2	UTSW	17	24,377,290 (GRCm39)	missense	probably damaging	1.00
R7402:Amdhd2	UTSW	17	24,380,657 (GRCm39)	missense
R8276:Amdhd2	UTSW	17	24,382,574 (GRCm39)	missense	probably damaging	0.98
R8831:Amdhd2	UTSW	17	24,376,712 (GRCm39)	critical splice donor site	probably null
R9327:Amdhd2	UTSW	17	24,377,421 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCAGGCCAAAAGCAAGTGTCGTAG -3'
(R):5'- TCCCAAGCCTAGTCCCTAAAAGCTG -3'

Sequencing Primer
(F):5'- agaccccatctcaaaaacaaaac -3'
(R):5'- AGCTGAAACTTGGACTTGCTC -3'

Posted On

2013-07-11