Mutagenetix > Incidental Mutation

Incidental Mutation 'R0931:Hdhd3'

80865

Institutional Source

Beutler Lab

Gene Symbol

Hdhd3

Ensembl Gene

ENSMUSG00000038422

Gene Name

haloacid dehalogenase-like hydrolase domain containing 3

Synonyms

2810435D12Rik

MMRRC Submission

039075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R0931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62417291-62420437 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 62417757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 140 (R140*)

Ref Sequence

ENSEMBL: ENSMUSP00000036337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030088] [ENSMUST00000037820] [ENSMUST00000107449]

AlphaFold

Q9CYW4

Predicted Effect

probably benign
Transcript: ENSMUST00000030088

SMART Domains

Protein: ENSMUSP00000030088
Gene: ENSMUSG00000028392

Domain	Start	End	E-Value	Type
low complexity region	9	60	N/A	INTRINSIC
Pfam:zf-B_box	65	107	1.2e-8	PFAM
low complexity region	225	239	N/A	INTRINSIC
PRY	277	330	1.79e-15	SMART
Pfam:SPRY	333	451	3.3e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037820
AA Change: R140*

SMART Domains

Protein: ENSMUSP00000036337
Gene: ENSMUSG00000038422
AA Change: R140*

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	7	205	1.3e-15	PFAM
Pfam:HAD_2	10	211	8.9e-20	PFAM
Pfam:Hydrolase_like	164	237	1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107449

SMART Domains

Protein: ENSMUSP00000103073
Gene: ENSMUSG00000028392

Domain	Start	End	E-Value	Type
low complexity region	9	60	N/A	INTRINSIC
Pfam:zf-B_box	65	107	4.4e-9	PFAM
low complexity region	225	239	N/A	INTRINSIC
PRY	277	330	1.79e-15	SMART
Pfam:SPRY	331	452	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140038

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,168,084 (GRCm39)	A476T	probably benign	Het
Ajm1	T	C	2: 25,468,501 (GRCm39)	E470G	possibly damaging	Het
Aknad1	T	C	3: 108,659,339 (GRCm39)	S118P	probably damaging	Het
Arhgap20	A	G	9: 51,728,041 (GRCm39)	T85A	probably benign	Het
Astn2	A	G	4: 65,566,530 (GRCm39)	L824P	probably damaging	Het
Ccr1	C	A	9: 123,763,827 (GRCm39)	K234N	probably damaging	Het
Cfap46	T	C	7: 139,235,757 (GRCm39)	R203G	probably damaging	Het
Col8a1	A	G	16: 57,448,931 (GRCm39)	I193T	unknown	Het
Cpa2	T	C	6: 30,552,070 (GRCm39)		probably benign	Het
Crabp1	T	C	9: 54,675,717 (GRCm39)	L100P	possibly damaging	Het
Cspp1	A	T	1: 10,174,511 (GRCm39)	R655W	probably damaging	Het
Ddx1	A	T	12: 13,287,818 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,138,772 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,771,921 (GRCm39)	S583P	probably damaging	Het
Exosc1	A	G	19: 41,921,676 (GRCm39)		probably benign	Het
Fhip1a	A	G	3: 85,580,550 (GRCm39)	S552P	probably benign	Het
Gas7	A	T	11: 67,543,751 (GRCm39)		probably benign	Het
Gss	A	T	2: 155,409,609 (GRCm39)		probably benign	Het
Irx2	T	A	13: 72,779,675 (GRCm39)	S320T	possibly damaging	Het
Kcnf1	T	C	12: 17,225,142 (GRCm39)	S360G	possibly damaging	Het
Klk1b4	T	C	7: 43,860,480 (GRCm39)	L166P	probably damaging	Het
Klri1	A	T	6: 129,674,381 (GRCm39)		probably benign	Het
Mettl27	T	C	5: 134,963,285 (GRCm39)		probably benign	Het
Myrfl	T	A	10: 116,675,354 (GRCm39)	H193L	probably benign	Het
Nbas	C	T	12: 13,381,115 (GRCm39)		probably benign	Het
Or10ac1	C	A	6: 42,515,020 (GRCm39)	R312L	probably benign	Het
Or52b2	A	T	7: 104,986,736 (GRCm39)	Y62*	probably null	Het
Papolg	A	G	11: 23,832,257 (GRCm39)	I177T	probably damaging	Het
Pdcd1	A	G	1: 93,967,238 (GRCm39)	V220A	probably benign	Het
Psmc1	T	C	12: 100,085,341 (GRCm39)	L234P	probably damaging	Het
Rasa2	A	T	9: 96,434,457 (GRCm39)	M610K	possibly damaging	Het
Ryr3	A	G	2: 112,484,047 (GRCm39)	F3930S	probably damaging	Het
Sacs	G	A	14: 61,440,944 (GRCm39)	V997I	probably benign	Het
Setdb2	A	G	14: 59,660,945 (GRCm39)		probably benign	Het
Ssu2	C	A	6: 112,361,359 (GRCm39)	L32F	probably damaging	Het
Taar1	A	T	10: 23,797,181 (GRCm39)	N293I	probably damaging	Het
Ttn	A	G	2: 76,611,846 (GRCm39)		probably benign	Het
Vmn2r49	T	C	7: 9,720,325 (GRCm39)	M389V	possibly damaging	Het
Wdr7	T	C	18: 63,998,371 (GRCm39)	V1106A	probably benign	Het
Zfp324	A	G	7: 12,700,185 (GRCm39)	I15V	probably benign	Het

Other mutations in Hdhd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5934:Hdhd3	UTSW	4	62,417,607 (GRCm39)	missense	possibly damaging	0.64
R7098:Hdhd3	UTSW	4	62,418,152 (GRCm39)	missense	probably damaging	1.00
R7457:Hdhd3	UTSW	4	62,418,027 (GRCm39)	missense	probably damaging	1.00
R7827:Hdhd3	UTSW	4	62,418,232 (GRCm39)	unclassified	probably benign
R9145:Hdhd3	UTSW	4	62,417,574 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGACCCCTGGTAATCACAGAGG -3'
(R):5'- ATACTCTGATCAAGCTCCGCCGAC -3'

Sequencing Primer
(F):5'- CTGGTAATCACAGAGGTAACTATCC -3'
(R):5'- GAAGGACGTGGTCCTACACAC -3'

Posted On

2013-11-07