Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01791:Hddc2'

155218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hddc2

Ensembl Gene

ENSMUSG00000000295

Gene Name

HD domain containing 2

Synonyms

2310057G13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01791

Quality Score

Status

Chromosome

Chromosomal Location

31189379-31204200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31202022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 123 (Y123C)

Ref Sequence

ENSEMBL: ENSMUSP00000000304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000159194]

AlphaFold

Q3SXD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000304
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: Y123C

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
HDc	37	152	3.51e-4	SMART

Predicted Effect

silent
Transcript: ENSMUST00000159194

SMART Domains

Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295

Domain	Start	End	E-Value	Type
Pfam:HD_3	1	100	1.5e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214047

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap32	A	G	9: 32,158,486 (GRCm39)	I174V	probably damaging	Het
Asb15	T	A	6: 24,567,211 (GRCm39)	C511S	probably damaging	Het
Atr	C	T	9: 95,803,834 (GRCm39)	A1896V	probably benign	Het
B3gnt4	C	T	5: 123,649,162 (GRCm39)	R176C	probably damaging	Het
Brf1	T	C	12: 112,926,095 (GRCm39)	D557G	probably benign	Het
Catsperg2	T	A	7: 29,404,090 (GRCm39)		probably null	Het
Cdip1	A	G	16: 4,586,729 (GRCm39)	I122T	probably damaging	Het
Ctrl	C	T	8: 106,659,199 (GRCm39)	E147K	probably benign	Het
Dennd2c	T	C	3: 103,073,741 (GRCm39)	V829A	probably benign	Het
Dync1h1	T	A	12: 110,625,364 (GRCm39)	L3874Q	probably damaging	Het
Dynlt4	T	A	4: 116,985,794 (GRCm39)	S206T	probably damaging	Het
Gm10521	T	C	1: 171,723,964 (GRCm39)	S92P	unknown	Het
Gm57858	T	C	3: 36,089,416 (GRCm39)		probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Hyal4	T	C	6: 24,763,894 (GRCm39)		probably benign	Het
Ighv16-1	T	C	12: 114,032,589 (GRCm39)	N71S	probably benign	Het
Ing2	A	T	8: 48,122,070 (GRCm39)	S159R	probably benign	Het
Itga1	A	T	13: 115,124,197 (GRCm39)	N698K	probably benign	Het
Lemd2	A	T	17: 27,409,702 (GRCm39)	I483N	probably damaging	Het
Lyst	T	C	13: 13,809,887 (GRCm39)	L519P	probably damaging	Het
Mapk10	T	C	5: 103,144,514 (GRCm39)	N101S	probably damaging	Het
Nfatc4	A	T	14: 56,069,695 (GRCm39)	E164V	probably null	Het
Nfkb2	T	G	19: 46,298,278 (GRCm39)		probably benign	Het
Nox3	A	G	17: 3,733,218 (GRCm39)	V231A	possibly damaging	Het
Nup160	G	A	2: 90,534,197 (GRCm39)	G674D	probably damaging	Het
Or1l4b	A	T	2: 37,036,548 (GRCm39)	D108V	probably damaging	Het
Or56b1	C	T	7: 104,285,682 (GRCm39)	T267I	possibly damaging	Het
Otoa	T	G	7: 120,755,072 (GRCm39)	V998G	probably benign	Het
Pcnx3	A	T	19: 5,723,295 (GRCm39)	M1300K	probably benign	Het
Pde4b	A	G	4: 102,448,127 (GRCm39)		probably benign	Het
Rfc1	T	A	5: 65,420,488 (GRCm39)	K1104I	probably benign	Het
Serpina1f	G	T	12: 103,659,761 (GRCm39)	Q174K	probably damaging	Het
Serping1	T	C	2: 84,603,721 (GRCm39)	N107D	possibly damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Surf6	A	G	2: 26,789,759 (GRCm39)	S94P	probably benign	Het
Tigd4	T	A	3: 84,502,052 (GRCm39)	I323N	probably damaging	Het
Vmn2r28	T	C	7: 5,491,161 (GRCm39)	D362G	probably benign	Het
Wdfy3	A	G	5: 102,085,278 (GRCm39)	S739P	probably damaging	Het

Other mutations in Hddc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Hddc2	APN	10	31,192,330 (GRCm39)	missense	probably damaging	0.99
IGL02069:Hddc2	APN	10	31,192,314 (GRCm39)	missense	probably damaging	1.00
IGL03048:Hddc2	UTSW	10	31,192,332 (GRCm39)	missense	possibly damaging	0.95
R0269:Hddc2	UTSW	10	31,203,942 (GRCm39)	missense	probably benign	0.00
R1761:Hddc2	UTSW	10	31,202,135 (GRCm39)	missense	probably damaging	0.99
R4290:Hddc2	UTSW	10	31,190,583 (GRCm39)	missense	possibly damaging	0.64
R4292:Hddc2	UTSW	10	31,190,583 (GRCm39)	missense	possibly damaging	0.64
R4655:Hddc2	UTSW	10	31,204,016 (GRCm39)	unclassified	probably benign
R5025:Hddc2	UTSW	10	31,203,949 (GRCm39)	missense	probably benign	0.06
R7448:Hddc2	UTSW	10	31,189,412 (GRCm39)	start codon destroyed	probably null
R7902:Hddc2	UTSW	10	31,196,338 (GRCm39)	splice site	probably null
R7902:Hddc2	UTSW	10	31,192,289 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04