Mutagenetix > Incidental Mutation

Incidental Mutation 'R1761:Hddc2'

192784

Institutional Source

Beutler Lab

Gene Symbol

Hddc2

Ensembl Gene

ENSMUSG00000000295

Gene Name

HD domain containing 2

Synonyms

MMRRC Submission

039793-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31313383-31328204 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31326139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 161 (D161Y)

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: D161Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: D161Y

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

Predicted Effect

probably benign
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

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	G	A	4: 41,507,223	P109L	probably damaging	Het
Abi3bp	C	T	16: 56,668,309	H1268Y	possibly damaging	Het
Acan	T	A	7: 79,094,085	Y621*	probably null	Het
Aig1	T	C	10: 13,690,584	Y152C	probably damaging	Het
Arhgap33	C	T	7: 30,533,063		probably null	Het
Bcl6	G	T	16: 23,977,542	A45D	probably damaging	Het
Cbx5	T	C	15: 103,213,180	D10G	possibly damaging	Het
Ccdc191	A	G	16: 43,943,510	I445V	probably benign	Het
Cdk4	T	A	10: 127,064,677		probably benign	Het
Chil6	A	G	3: 106,394,338	F149L	probably damaging	Het
Cntn5	T	C	9: 10,172,054	T42A	probably benign	Het
Cpn2	A	T	16: 30,260,196	I229N	probably damaging	Het
Cpne8	A	G	15: 90,648,618	V62A	probably damaging	Het
Cr2	A	G	1: 195,155,123		probably null	Het
Crnn	A	T	3: 93,148,651	H248L	probably benign	Het
Csn1s1	A	G	5: 87,679,035	S254G	probably benign	Het
Cubn	A	G	2: 13,489,317		probably null	Het
Dnah8	A	G	17: 30,779,916	N3525S	probably damaging	Het
Dpp3	A	G	19: 4,921,149	L220P	probably benign	Het
Fam110a	T	C	2: 151,970,205	E215G	probably benign	Het
Fam20a	A	T	11: 109,677,838	N287K	probably damaging	Het
Fat4	T	C	3: 38,887,489	V177A	possibly damaging	Het
Fzd8	C	T	18: 9,213,643	R242C	probably damaging	Het
Gimap5	A	T	6: 48,753,261	Q255L	probably damaging	Het
Gm13083	T	C	4: 143,615,868	Y182H	probably benign	Het
Gm4787	A	G	12: 81,377,176	L736S	probably benign	Het
Gmeb1	G	A	4: 132,234,887	Q154*	probably null	Het
Gpr156	T	C	16: 37,987,567	L192P	probably damaging	Het
Gpr179	A	C	11: 97,335,106	S2074R	probably benign	Het
Hlcs	T	C	16: 94,268,007	D265G	probably benign	Het
Hspg2	A	T	4: 137,514,673	I573F	possibly damaging	Het
Il1b	T	C	2: 129,365,181	K220E	probably damaging	Het
Il5	T	C	11: 53,723,730	I66T	probably damaging	Het
Irf6	G	A	1: 193,169,301	R400H	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Lmf2	A	G	15: 89,352,713	V442A	possibly damaging	Het
Mcm2	T	C	6: 88,889,788	I412M	possibly damaging	Het
Mlkl	T	A	8: 111,333,723	L18F	possibly damaging	Het
Mug2	C	A	6: 122,074,705	H949N	probably benign	Het
Nf1	T	C	11: 79,384,265	F51L	probably damaging	Het
Olfr1049	T	G	2: 86,255,039	Y218S	probably damaging	Het
Olfr592	T	G	7: 103,187,118	C172W	probably damaging	Het
Olfr77	A	T	9: 19,921,149	*313C	probably null	Het
P3h2	T	C	16: 25,985,050	E322G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,646,025		probably null	Het
Ptdss1	T	C	13: 66,956,412	V116A	possibly damaging	Het
Ranbp2	T	C	10: 58,485,741	V2620A	probably benign	Het
Robo2	A	G	16: 74,035,024	V256A	probably damaging	Het
Scg3	T	A	9: 75,676,758	I154F	probably damaging	Het
Scgn	A	T	13: 23,959,706	F225Y	probably damaging	Het
Sec61b	T	C	4: 47,480,137	C58R	possibly damaging	Het
Slc25a46	G	T	18: 31,607,262	Q96K	possibly damaging	Het
Sptb	A	G	12: 76,612,608	F1173L	probably damaging	Het
Srcap	T	A	7: 127,534,845	C893S	probably damaging	Het
Tet3	T	C	6: 83,403,659	E509G	probably damaging	Het
Timm10b	C	T	7: 105,683,708	R897*	probably null	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tom1	T	C	8: 75,051,551	V87A	probably benign	Het
Tti1	T	C	2: 158,007,697	I541V	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tubb1	A	G	2: 174,456,896	S124G	probably benign	Het
Vgll3	A	T	16: 65,839,728	D310V	probably damaging	Het
Vmac	A	G	17: 56,715,788	L74P	probably damaging	Het
Zbtb1	A	T	12: 76,385,821	K194*	probably null	Het
Zfp429	A	G	13: 67,396,076	M76T	probably benign	Het
Zfp808	T	A	13: 62,171,646	C230S	possibly damaging	Het
Zfp980	A	G	4: 145,702,042	Y447C	probably damaging	Het
Zfp985	A	G	4: 147,584,045	T457A	probably benign	Het

Other mutations in Hddc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01148:Hddc2	APN	10	31316334	missense	probably damaging	0.99
IGL01791:Hddc2	APN	10	31326026	missense	probably damaging	1.00
IGL02069:Hddc2	APN	10	31316318	missense	probably damaging	1.00
IGL03048:Hddc2	UTSW	10	31316336	missense	possibly damaging	0.95
R0269:Hddc2	UTSW	10	31327946	missense	probably benign	0.00
R4290:Hddc2	UTSW	10	31314587	missense	possibly damaging	0.64
R4292:Hddc2	UTSW	10	31314587	missense	possibly damaging	0.64
R4655:Hddc2	UTSW	10	31328020	unclassified	probably benign
R5025:Hddc2	UTSW	10	31327953	missense	probably benign	0.06
R7448:Hddc2	UTSW	10	31313416	start codon destroyed	probably null
R7902:Hddc2	UTSW	10	31316293	missense	probably damaging	0.99
R7902:Hddc2	UTSW	10	31320342	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCTAATCTGTGCCTGCAAGAC -3'
(R):5'- TGCCACTGGCATCTCAACCATC -3'

Sequencing Primer
(F):5'- CTGACTCCATGTACTCAAGTAGG -3'
(R):5'- ATCTCAACCATCCCGCCATTC -3'

Posted On

2014-05-23