Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:Amdhd1'

400609

Institutional Source

Beutler Lab

Gene Symbol

Amdhd1

Ensembl Gene

ENSMUSG00000015890

Gene Name

amidohydrolase domain containing 1

Synonyms

1300019J08Rik

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5199 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

93359200-93375895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93361847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 352 (C352S)

Ref Sequence

ENSEMBL: ENSMUSP00000016034 (fasta)

Gene Model

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

AlphaFold

Q9DBA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000016034
AA Change: C352S

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

SMART Domains

Protein: ENSMUSP00000016034
Gene: ENSMUSG00000015890
AA Change: C352S

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

0.9024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	C	3: 59,843,906 (GRCm39)	L200P	probably damaging	Het
Adam1a	T	C	5: 121,659,215 (GRCm39)	E26G	probably benign	Het
Adar	T	A	3: 89,653,251 (GRCm39)	M797K	probably damaging	Het
AW554918	C	A	18: 25,473,356 (GRCm39)	R387S	probably damaging	Het
Cabp1	A	G	5: 115,324,102 (GRCm39)	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,295,853 (GRCm39)	L387P	probably damaging	Het
Cds2	T	A	2: 132,140,403 (GRCm39)	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,710,581 (GRCm39)	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,483,425 (GRCm39)	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,006,100 (GRCm39)	Q210*	probably null	Het
Cpne8	G	A	15: 90,532,812 (GRCm39)	T65I	probably benign	Het
Crygn	A	G	5: 24,961,156 (GRCm39)	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,517,283 (GRCm39)	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,921,346 (GRCm39)	D464G	probably benign	Het
Dapp1	C	T	3: 137,687,146 (GRCm39)	S12N	probably benign	Het
Dhps	G	A	8: 85,800,035 (GRCm39)	G162R	probably damaging	Het
Dsp	T	G	13: 38,376,878 (GRCm39)	Y1554*	probably null	Het
Etl4	G	T	2: 20,748,853 (GRCm39)	R397L	probably damaging	Het
Ezh2	C	T	6: 47,528,659 (GRCm39)	C291Y	probably benign	Het
Gbp9	T	C	5: 105,231,678 (GRCm39)	S303G	probably benign	Het
Gm11444	A	C	11: 85,738,845 (GRCm39)	S83A	unknown	Het
Gpat4	A	G	8: 23,672,712 (GRCm39)	V46A	possibly damaging	Het
Haus6	T	C	4: 86,501,222 (GRCm39)	D883G	possibly damaging	Het
Hinfp	T	C	9: 44,207,689 (GRCm39)	E439G	probably benign	Het
Ifna14	T	A	4: 88,489,599 (GRCm39)	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,664,488 (GRCm39)	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,942 (GRCm39)		noncoding transcript	Het
Klrh1	T	A	6: 129,752,781 (GRCm39)	Y8F	possibly damaging	Het
Mcmdc2	T	C	1: 9,990,660 (GRCm39)	V279A	probably benign	Het
Mug2	T	A	6: 122,017,619 (GRCm39)	V452D	probably benign	Het
Ndufb3	C	G	1: 58,630,281 (GRCm39)		probably benign	Het
Oas1d	G	T	5: 121,057,208 (GRCm39)	K271N	probably benign	Het
Or4c110	T	A	2: 88,832,107 (GRCm39)	H175L	possibly damaging	Het
Or5ac21	T	A	16: 59,124,103 (GRCm39)	F196I	probably benign	Het
Or9g3	A	G	2: 85,590,558 (GRCm39)	L54P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcnt	T	A	10: 76,254,378 (GRCm39)	H817L	probably benign	Het
Per3	G	T	4: 151,097,352 (GRCm39)	S724R	probably benign	Het
Phlpp1	T	A	1: 106,101,124 (GRCm39)	V464E	probably damaging	Het
Psme4	A	G	11: 30,803,272 (GRCm39)	E38G	probably benign	Het
Qtrt2	T	C	16: 43,687,788 (GRCm39)	N264S	probably benign	Het
Ranbp2	G	A	10: 58,300,265 (GRCm39)	R557H	probably benign	Het
Rptor	T	A	11: 119,494,642 (GRCm39)	S3T	probably benign	Het
Saxo1	T	A	4: 86,406,019 (GRCm39)	Y60F	probably damaging	Het
St3gal1	A	G	15: 66,985,564 (GRCm39)	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149 (GRCm39)	S324L	probably benign	Het
Topbp1	A	G	9: 103,223,871 (GRCm39)		probably benign	Het
Urb1	T	C	16: 90,589,636 (GRCm39)	T382A	possibly damaging	Het
Vmn1r178	A	T	7: 23,593,814 (GRCm39)	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,231,921 (GRCm39)	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,639,984 (GRCm39)	D281G	probably benign	Het
Zfp804b	A	T	5: 6,820,013 (GRCm39)	C1017S	probably benign	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
R4159:Amdhd1	UTSW	10	93,370,512 (GRCm39)	missense	probably damaging	1.00
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
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'- CAAGTAGGAAGACATCTACAACTTG -3'
(R):5'- TGGGGCCTTTTACATCTGAGC -3'

Sequencing Primer
(F):5'- ACAACTTGTCTACATGGGCATCG -3'
(R):5'- TGAGCCCAGATTATCCCTGAG -3'

Posted On

2016-07-06