Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Amdhd2'

443070

Institutional Source

Beutler Lab

Gene Symbol

Amdhd2

Ensembl Gene

ENSMUSG00000036820

Gene Name

amidohydrolase domain containing 2

Synonyms

5730457F11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24374807-24382740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24375014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 396 (I396T)

Ref Sequence

ENSEMBL: ENSMUSP00000036141 (fasta)

Gene Model

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

AlphaFold

Q8JZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040735
AA Change: I396T

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

SMART Domains

Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
AA Change: I396T

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 benign
Transcript: ENSMUST00000138685

SMART Domains

Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	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
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
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'- AGACAAGGCAAGTCCCACTG -3'
(R):5'- AGTTGATACTCTTGCTTCCAGC -3'

Sequencing Primer
(F):5'- GTCTGTATTTATCCAAGCCACTG -3'
(R):5'- TTCCAGCTCCCCCACCAG -3'

Posted On

2016-11-09