Mutagenetix > Incidental Mutation

Incidental Mutation 'R0970:Amdhd2'

84040

Institutional Source

Beutler Lab

Gene Symbol

Amdhd2

Ensembl Gene

ENSMUSG00000036820

Gene Name

amidohydrolase domain containing 2

Synonyms

5730457F11Rik

MMRRC Submission

039099-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R0970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24374807-24382740 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 24375544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8JZV7

Predicted Effect

probably null
Transcript: ENSMUST00000040735

SMART Domains

Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820

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

probably null
Transcript: ENSMUST00000138685

SMART Domains

Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820

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

Predicted Effect

probably null
Transcript: ENSMUST00000138685

SMART Domains

Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820

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

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,661,364 (GRCm39)	S307P	probably damaging	Het
Ano1	A	T	7: 144,149,308 (GRCm39)	M851K	probably benign	Het
Arid3b	A	T	9: 57,740,834 (GRCm39)		probably benign	Het
Arpp21	A	G	9: 111,965,516 (GRCm39)		probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
C87436	G	A	6: 86,424,310 (GRCm39)	V281M	probably damaging	Het
Cep70	A	G	9: 99,157,652 (GRCm39)	K184E	possibly damaging	Het
Clcn7	T	C	17: 25,370,208 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a2	A	G	8: 11,465,438 (GRCm39)	T383A	probably benign	Het
Commd5	A	T	15: 76,784,885 (GRCm39)		probably null	Het
Cyp4b1	G	A	4: 115,492,833 (GRCm39)	A292V	probably benign	Het
Dthd1	T	C	5: 63,045,324 (GRCm39)	L696P	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eepd1	A	G	9: 25,514,722 (GRCm39)	R510G	probably damaging	Het
Eno3	T	C	11: 70,551,628 (GRCm39)	I196T	probably damaging	Het
Eva1a	A	G	6: 82,069,084 (GRCm39)	E137G	probably damaging	Het
Gapvd1	T	A	2: 34,620,625 (GRCm39)		probably null	Het
Ggnbp2	T	C	11: 84,753,138 (GRCm39)	M34V	possibly damaging	Het
Gpihbp1	G	A	15: 75,469,795 (GRCm39)	S170N	probably benign	Het
Kdm3b	T	C	18: 34,942,092 (GRCm39)	S528P	probably damaging	Het
Lrrk2	A	T	15: 91,613,372 (GRCm39)	Q832L	probably benign	Het
Nav2	C	A	7: 49,233,901 (GRCm39)	P1861Q	probably damaging	Het
Or52n5	A	C	7: 104,588,284 (GRCm39)	M184L	probably benign	Het
Piezo1	A	T	8: 123,213,549 (GRCm39)	I1782N	possibly damaging	Het
Pikfyve	T	A	1: 65,304,983 (GRCm39)	S1757T	probably damaging	Het
Plxnb1	G	T	9: 108,932,331 (GRCm39)	W523C	probably damaging	Het
Pmm2	G	T	16: 8,460,640 (GRCm39)	L31F	probably damaging	Het
Ppm1f	T	C	16: 16,721,457 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,189,287 (GRCm39)	Y34C	probably damaging	Het
Slc10a2	C	G	8: 5,155,115 (GRCm39)	E23D	probably benign	Het
Smc5	T	A	19: 23,216,362 (GRCm39)	I489F	probably damaging	Het
Snx2	T	C	18: 53,343,762 (GRCm39)		probably benign	Het
Stradb	C	T	1: 59,016,219 (GRCm39)	L3F	possibly damaging	Het
Tnxb	C	G	17: 34,917,917 (GRCm39)	P2277A	possibly damaging	Het
Tpm2	T	A	4: 43,515,968 (GRCm39)	I270F	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Urb1	A	T	16: 90,566,335 (GRCm39)	L1484Q	possibly damaging	Het
Xylt1	G	A	7: 117,233,963 (GRCm39)	V497I	probably damaging	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
R0619:Amdhd2	UTSW	17	24,375,562 (GRCm39)	missense	possibly damaging	0.65
R0759:Amdhd2	UTSW	17	24,380,587 (GRCm39)	missense	probably benign	0.02
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

2013-11-08