Mutagenetix > Incidental Mutations

Incidental Mutation 'R6295:Hdhd5'

508702

Institutional Source

Beutler Lab

Gene Symbol

Hdhd5

Ensembl Gene

ENSMUSG00000058979

Gene Name

haloacid dehalogenase like hydrolase domain containing 5

Synonyms

Cecr5, A930002G03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120509494-120531319 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120518524 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 153 (N153D)

Ref Sequence

ENSEMBL: ENSMUSP00000074775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075303]

Predicted Effect

probably benign
Transcript: ENSMUST00000075303
AA Change: N153D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074775
Gene: ENSMUSG00000058979
AA Change: N153D

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Hydrolase_6	49	152	2e-22	PFAM
Pfam:Hydrolase_like	275	351	3.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141029

Meta Mutation Damage Score

0.1046

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,874,644	V1061G	probably damaging	Het
Acap1	A	G	11: 69,890,587		probably null	Het
Apbb1	A	G	7: 105,566,695	F112L	probably benign	Het
Atg9a	A	G	1: 75,185,058	S615P	probably benign	Het
Atp8a2	G	A	14: 60,012,399	R548*	probably null	Het
Bbof1	A	T	12: 84,411,168	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,427,407	V186D	probably benign	Het
Bmp1	T	G	14: 70,491,383	Y583S	possibly damaging	Het
Boc	A	C	16: 44,492,348	S586R	probably benign	Het
Btbd9	A	T	17: 30,299,736		probably null	Het
Cacna1e	T	C	1: 154,442,173	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,246,456	H149R	probably damaging	Het
Cops5	T	C	1: 10,030,695		probably benign	Het
Doc2b	T	C	11: 75,795,625	Y90C	probably benign	Het
Doc2b	C	T	11: 75,780,267	R209Q	probably damaging	Het
Ep400	A	G	5: 110,753,809	F481L	probably benign	Het
Fat4	T	A	3: 39,007,080		probably null	Het
Fbxw16	T	A	9: 109,448,769		probably benign	Het
Fbxw27	T	C	9: 109,772,086	E17G	possibly damaging	Het
Gm29735	G	A	7: 142,156,630	P162S	unknown	Het
Gypa	T	G	8: 80,496,340	S24R	unknown	Het
Ibsp	C	A	5: 104,302,121		probably null	Het
Klhdc3	C	T	17: 46,678,046	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,497,633	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,930,134	H558R	probably benign	Het
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,320,915	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,638,501	R251C	probably damaging	Het
Numa1	G	A	7: 102,000,767	R1235H	probably benign	Het
Olfr512	T	C	7: 108,713,638	V95A	probably damaging	Het
Opn1sw	T	A	6: 29,379,414	Y197F	possibly damaging	Het
Pcca	A	T	14: 122,658,775	I268F	probably benign	Het
Per2	A	T	1: 91,449,872	D76E	unknown	Het
Pfas	T	C	11: 68,997,999	N374S	probably benign	Het
Pomk	C	A	8: 25,982,927	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,835,289	E194G	probably benign	Het
Ptpn14	C	T	1: 189,850,800	P615S	probably damaging	Het
Pyroxd1	T	C	6: 142,354,753	I203T	probably benign	Het
Rgs22	T	C	15: 36,087,374	N466S	probably benign	Het
Rpl3l	G	A	17: 24,733,992	V309I	probably benign	Het
Rtkn2	C	T	10: 67,979,699		probably benign	Het
Sec16a	C	T	2: 26,428,241	A1613T	probably damaging	Het
Sis	T	A	3: 72,966,770	T33S	probably damaging	Het
Slc22a4	C	A	11: 54,007,808	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,794,609	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,509,556	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,796,746	L1144M	probably damaging	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,475,363	V249A	probably benign	Het
Wdr7	T	A	18: 63,755,111	C552S	probably damaging	Het

Other mutations in Hdhd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1499:Hdhd5	UTSW	6	120514512	missense	probably damaging	0.98
R4795:Hdhd5	UTSW	6	120523446	missense	probably benign
R5872:Hdhd5	UTSW	6	120510291	missense	probably benign
R5878:Hdhd5	UTSW	6	120514524	missense	probably damaging	1.00
R6556:Hdhd5	UTSW	6	120523554	missense	probably benign	0.00
R6815:Hdhd5	UTSW	6	120521209	missense	probably benign	0.02
R6991:Hdhd5	UTSW	6	120510169	missense	probably damaging	0.99
R7159:Hdhd5	UTSW	6	120523471	missense	probably damaging	1.00
R7250:Hdhd5	UTSW	6	120517055	missense	possibly damaging	0.93
R7538:Hdhd5	UTSW	6	120521296	missense	possibly damaging	0.92
R7623:Hdhd5	UTSW	6	120521251	missense	probably damaging	1.00
R7909:Hdhd5	UTSW	6	120531191	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCGAGATCTACACAGGAC -3'
(R):5'- AGCTCCCTGAGTACACAGTG -3'

Sequencing Primer
(F):5'- GATCTACACAGGACCCAACACTGAG -3'
(R):5'- CTGGTGTAGATAGAGTTGGTACCAG -3'

Posted On

2018-04-02