Mutagenetix > Incidental Mutation

Incidental Mutation 'R4292:Hddc2'

323125

Institutional Source

Beutler Lab

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 #

R4292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31189379-31204200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31190583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 48 (M48L)

Ref Sequence

ENSEMBL: ENSMUSP00000000304 (fasta)

Gene Model

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

AlphaFold

Q3SXD3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000304
AA Change: M48L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295
AA Change: M48L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122700

Predicted Effect

probably benign
Transcript: ENSMUST00000159194
AA Change: M29L

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295
AA Change: M29L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162076

Meta Mutation Damage Score

0.4134

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,772,977 (GRCm39)	K1232E	possibly damaging	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cep68	A	T	11: 20,190,079 (GRCm39)	V311D	probably damaging	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gcn1	G	A	5: 115,714,207 (GRCm39)	A116T	possibly damaging	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Kif18a	A	T	2: 109,128,471 (GRCm39)	I376L	probably damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Myh2	A	G	11: 67,085,723 (GRCm39)	K1855R	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5b98	G	A	19: 12,931,520 (GRCm39)	C189Y	possibly damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pdss2	A	G	10: 43,097,834 (GRCm39)	Y26C	probably benign	Het
Pgm2l1	A	G	7: 99,899,508 (GRCm39)	T41A	probably damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Rrp12	T	C	19: 41,861,344 (GRCm39)		probably null	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Slco4c1	C	G	1: 96,772,381 (GRCm39)		probably null	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Tgfb2	T	C	1: 186,364,735 (GRCm39)	H253R	probably damaging	Het
Top3b	A	T	16: 16,701,383 (GRCm39)	I232F	probably damaging	Het
Trim24	G	A	6: 37,877,627 (GRCm39)	R39H	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,320 (GRCm39)	M851K	probably benign	Het
Ttn	A	G	2: 76,762,855 (GRCm39)	V3268A	possibly damaging	Het
Unc79	A	T	12: 103,149,703 (GRCm39)	Q2599L	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	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
IGL01791:Hddc2	APN	10	31,202,022 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCACGACTCAGCTGACATG -3'
(R):5'- TCACACATATTCACCCTTTAAGGC -3'

Sequencing Primer
(F):5'- ACTCAGCTGACATGTGGCTCTG -3'
(R):5'- AAGGCCCTAACTTCTCACTTG -3'

Posted On

2015-06-20