Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:Amdhd1'

52119

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amdhd1

Ensembl Gene

ENSMUSG00000015890

Gene Name

amidohydrolase domain containing 1

Synonyms

1300019J08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

93359200-93375895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93367430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 241 (D241E)

Ref Sequence

ENSEMBL: ENSMUSP00000016034 (fasta)

Gene Model

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

AlphaFold

Q9DBA8

Predicted Effect

probably benign
Transcript: ENSMUST00000016034
AA Change: D241E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016034
Gene: ENSMUSG00000015890
AA Change: D241E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,195,058 (GRCm39)	R539Q	probably benign	Het
Abcb1a	G	A	5: 8,724,687 (GRCm39)	R40H	probably damaging	Het
Acan	T	A	7: 78,748,401 (GRCm39)	S1057R	possibly damaging	Het
Ahnak	A	T	19: 8,989,942 (GRCm39)	D3742V	probably damaging	Het
Cntn5	T	C	9: 9,831,565 (GRCm39)	Y605C	possibly damaging	Het
Dnmt3l	T	C	10: 77,893,120 (GRCm39)	F299S	probably damaging	Het
Eif1ad19	T	A	12: 87,740,212 (GRCm39)	N116Y	probably damaging	Het
Ess2	A	T	16: 17,720,796 (GRCm39)	I350N	probably damaging	Het
G6pd2	A	T	5: 61,967,406 (GRCm39)	M394L	probably benign	Het
Gm9839	A	T	1: 32,558,924 (GRCm39)	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hgs	T	C	11: 120,366,040 (GRCm39)	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,978 (GRCm39)	S96C	probably damaging	Het
Mgl2	A	G	11: 70,025,015 (GRCm39)	E12G	probably benign	Het
Mup11	A	T	4: 60,615,779 (GRCm39)	F153I	probably damaging	Het
Nf1	T	A	11: 79,437,812 (GRCm39)	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,152,410 (GRCm39)	F624S	probably damaging	Het
Noto	T	C	6: 85,401,192 (GRCm39)	S74P	probably benign	Het
Or8k40	A	G	2: 86,584,314 (GRCm39)	I256T	probably benign	Het
Pax8	T	C	2: 24,332,944 (GRCm39)		probably benign	Het
Psg28	A	T	7: 18,162,017 (GRCm39)	V162D	probably damaging	Het
Rai1	T	C	11: 60,078,264 (GRCm39)	F776S	probably damaging	Het
Taar8a	A	T	10: 23,952,759 (GRCm39)	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,870,278 (GRCm39)	N102S	probably benign	Het
Trpm1	A	G	7: 63,885,572 (GRCm39)	T863A	probably benign	Het
Ttf2	A	G	3: 100,874,413 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,942,206 (GRCm39)	H611R	probably damaging	Het
Wdr90	A	T	17: 26,073,661 (GRCm39)	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,005,054 (GRCm39)	S364A	probably damaging	Het
Zdhhc15	G	T	X: 103,641,712 (GRCm39)	Q82K	probably benign	Het

Other mutations in Amdhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-21