Mutagenetix > Incidental Mutation

Incidental Mutation 'R4768:Amdhd1'

366287

Institutional Source

Beutler Lab

Gene Symbol

Amdhd1

Ensembl Gene

ENSMUSG00000015890

Gene Name

amidohydrolase domain containing 1

Synonyms

1300019J08Rik

MMRRC Submission

042409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4768 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

93359200-93375895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93370346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 164 (E164V)

Ref Sequence

ENSEMBL: ENSMUSP00000016034 (fasta)

Gene Model

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

AlphaFold

Q9DBA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016034
AA Change: E164V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000016034
Gene: ENSMUSG00000015890
AA Change: E164V

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,628,579 (GRCm39)	Y419H	probably benign	Het
Adam28	A	G	14: 68,872,264 (GRCm39)	V326A	possibly damaging	Het
Arhgap5	T	C	12: 52,604,275 (GRCm39)	L29S	probably damaging	Het
Asb5	G	A	8: 55,038,031 (GRCm39)	D185N	probably benign	Het
Ascc3	T	C	10: 50,576,595 (GRCm39)	I850T	probably damaging	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
Bmp4	C	T	14: 46,623,381 (GRCm39)	R55Q	probably damaging	Het
Brd8dc	T	C	18: 34,714,005 (GRCm39)	R207G	probably damaging	Het
Cmas	T	C	6: 142,710,157 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,420,827 (GRCm39)	D531G	possibly damaging	Het
Etv1	T	C	12: 38,877,792 (GRCm39)	L44P	probably damaging	Het
Fam13c	T	A	10: 70,387,580 (GRCm39)	I448N	probably damaging	Het
Fcsk	T	C	8: 111,618,766 (GRCm39)	T331A	probably benign	Het
Fut8	A	G	12: 77,412,054 (GRCm39)	K135E	probably benign	Het
Gabrg1	A	G	5: 70,911,516 (GRCm39)	F370S	probably damaging	Het
Ighv1-5	A	T	12: 114,477,143 (GRCm39)	M53K	probably damaging	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Krt27	T	A	11: 99,240,351 (GRCm39)	D189V	probably damaging	Het
Marf1	A	T	16: 13,949,461 (GRCm39)	F1033I	possibly damaging	Het
Mdfi	G	A	17: 48,135,475 (GRCm39)	T85M	probably damaging	Het
Mrgpra3	C	A	7: 47,239,476 (GRCm39)	R150L	possibly damaging	Het
Mst1r	C	A	9: 107,788,849 (GRCm39)	T456K	probably damaging	Het
Myh14	A	T	7: 44,263,099 (GRCm39)	M1734K	probably benign	Het
Myo1e	T	C	9: 70,277,751 (GRCm39)	I816T	possibly damaging	Het
Or7d10	A	C	9: 19,831,841 (GRCm39)	N112T	possibly damaging	Het
Or8b12	T	C	9: 37,658,177 (GRCm39)	L249P	probably damaging	Het
Or8b55	T	A	9: 38,727,245 (GRCm39)	Y149N	probably damaging	Het
Or8k28	A	T	2: 86,285,994 (GRCm39)	L207*	probably null	Het
Pde4d	A	G	13: 110,070,408 (GRCm39)	R6G	probably damaging	Het
Pilrb1	G	A	5: 137,855,788 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,085,334 (GRCm39)	Y199H	probably damaging	Het
Rxfp1	T	C	3: 79,594,175 (GRCm39)	D73G	probably damaging	Het
Ryr1	G	T	7: 28,704,246 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,057,284 (GRCm39)	E1068G	probably damaging	Het
Slc19a3	G	A	1: 83,000,834 (GRCm39)	T61I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Suclg2	T	G	6: 95,543,469 (GRCm39)	I321L	probably damaging	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Ttn	C	T	2: 76,599,110 (GRCm39)		probably benign	Het
Upp2	T	C	2: 58,667,907 (GRCm39)	V182A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,602 (GRCm39)	L151P	probably damaging	Het
Xylt2	T	C	11: 94,561,298 (GRCm39)	D155G	probably benign	Het
Zzz3	A	G	3: 152,154,420 (GRCm39)	D557G	probably damaging	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
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'- AGTGCTAGAGAACCTCCACC -3'
(R):5'- ACCTGTAACCTCCCTGAGTG -3'

Sequencing Primer
(F):5'- TAGAGAACCTCCACCCTCCAGAG -3'
(R):5'- GTAACCTCCCTGAGTGAGCCTTG -3'

Posted On

2015-12-21