Mutagenetix > Incidental Mutation

Incidental Mutation 'R4741:Hddc3'

358081

Institutional Source

Beutler Lab

Gene Symbol

Hddc3

Ensembl Gene

ENSMUSG00000030532

Gene Name

HD domain containing 3

Synonyms

1110033O09Rik

MMRRC Submission

042026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79992852-80000295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79995464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 160 (T160A)

Ref Sequence

ENSEMBL: ENSMUSP00000032747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032747] [ENSMUST00000098346] [ENSMUST00000107368] [ENSMUST00000205531] [ENSMUST00000205744] [ENSMUST00000206074] [ENSMUST00000206122] [ENSMUST00000206089] [ENSMUST00000205768] [ENSMUST00000206480]

AlphaFold

Q9D114

Predicted Effect

probably benign
Transcript: ENSMUST00000032747
AA Change: T160A

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032747
Gene: ENSMUSG00000030532
AA Change: T160A

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
HDc	28	136	1.01e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098346

SMART Domains

Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
coiled coil region	44	75	N/A	INTRINSIC
Pfam:Glyco_hydro_38	167	497	1.9e-109	PFAM
Alpha-mann_mid	502	588	1.4e-32	SMART
Pfam:Glyco_hydro_38C	648	1148	1.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107368

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	21	54	9.53e-2	SMART
TPR	58	91	5.48e-2	SMART
TPR	92	125	7.45e-4	SMART
Blast:ARM	183	224	6e-9	BLAST
Blast:ARM	226	266	1e-7	BLAST
Pfam:UNC45-central	314	505	2.4e-38	PFAM
Blast:ARM	679	717	4e-13	BLAST
Blast:ARM	720	762	4e-12	BLAST
Blast:ARM	764	804	8e-16	BLAST
low complexity region	833	845	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205318

Predicted Effect

probably benign
Transcript: ENSMUST00000205448

Predicted Effect

probably benign
Transcript: ENSMUST00000205531

Predicted Effect

probably benign
Transcript: ENSMUST00000205744

Predicted Effect

probably benign
Transcript: ENSMUST00000206559

Predicted Effect

probably benign
Transcript: ENSMUST00000206074

Predicted Effect

probably benign
Transcript: ENSMUST00000206122

Predicted Effect

probably benign
Transcript: ENSMUST00000206089

Predicted Effect

probably benign
Transcript: ENSMUST00000205768

Predicted Effect

probably benign
Transcript: ENSMUST00000206480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206494

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl2	T	C	2: 33,136,200 (GRCm39)	Y462H	probably benign	Het
Arhgef12	A	G	9: 42,883,449 (GRCm39)	I1360T	possibly damaging	Het
Armc10	T	G	5: 21,856,834 (GRCm39)	L111R	probably damaging	Het
Atm	T	C	9: 53,364,907 (GRCm39)	K2628E	probably benign	Het
Best3	A	T	10: 116,859,901 (GRCm39)	N387I	probably benign	Het
Bltp1	A	G	3: 36,996,524 (GRCm39)	T1079A	probably damaging	Het
Brpf3	T	C	17: 29,036,758 (GRCm39)	F721S	possibly damaging	Het
Cacna1c	A	G	6: 118,590,271 (GRCm39)	S1411P	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip2	T	A	5: 134,545,123 (GRCm39)	T344S	probably benign	Het
Csmd1	A	C	8: 15,960,447 (GRCm39)	W3323G	probably damaging	Het
Doc2a	A	T	7: 126,450,617 (GRCm39)	T298S	possibly damaging	Het
Dpp9	T	C	17: 56,512,286 (GRCm39)	N234S	probably benign	Het
Dtx2	C	T	5: 136,055,371 (GRCm39)	R353C	probably benign	Het
Epm2aip1	A	G	9: 111,101,681 (GRCm39)	H218R	probably benign	Het
F2rl1	G	A	13: 95,650,651 (GRCm39)	T77M	probably damaging	Het
Fsd2	A	G	7: 81,201,643 (GRCm39)		probably null	Het
Grin2a	T	C	16: 9,481,376 (GRCm39)	Y475C	probably damaging	Het
H2-Ob	T	A	17: 34,461,545 (GRCm39)	S95T	possibly damaging	Het
Hp	A	T	8: 110,302,104 (GRCm39)	C281*	probably null	Het
Ighg1	T	C	12: 113,290,178 (GRCm39)		probably benign	Het
Ints7	A	G	1: 191,351,747 (GRCm39)	I819V	probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Jmjd1c	A	G	10: 67,060,718 (GRCm39)	I737V	possibly damaging	Het
Krt74	C	T	15: 101,669,876 (GRCm39)		noncoding transcript	Het
Lnpep	T	C	17: 17,791,920 (GRCm39)	Y407C	probably damaging	Het
Lrp4	T	G	2: 91,341,912 (GRCm39)	C1842G	probably damaging	Het
Mug2	T	A	6: 122,056,572 (GRCm39)	N1172K	probably benign	Het
Npy6r	A	T	18: 44,408,791 (GRCm39)	T71S	probably damaging	Het
Nsd3	A	T	8: 26,163,382 (GRCm39)	I591F	probably damaging	Het
Oog2	A	C	4: 143,921,715 (GRCm39)	E208D	possibly damaging	Het
Otogl	A	G	10: 107,615,121 (GRCm39)	I1928T	probably benign	Het
Papss1	T	C	3: 131,324,860 (GRCm39)	L418P	probably damaging	Het
Pcdhb13	T	A	18: 37,576,571 (GRCm39)	D316E	probably benign	Het
Pcdhgb2	T	A	18: 37,824,737 (GRCm39)		probably null	Het
Ptcd3	T	A	6: 71,879,933 (GRCm39)	L108F	probably damaging	Het
Ralgps1	T	C	2: 33,226,599 (GRCm39)	S31G	probably benign	Het
Rnf225	A	T	7: 12,661,857 (GRCm39)	H12L	probably benign	Het
Ryr3	T	A	2: 112,633,613 (GRCm39)	M2047L	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb3b	G	T	1: 107,082,200 (GRCm39)	Q355K	probably benign	Het
Slc8a2	T	A	7: 15,868,233 (GRCm39)	F155Y	probably damaging	Het
Taf1c	A	G	8: 120,330,134 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,293,837 (GRCm39)		probably null	Het
Tmpo	A	G	10: 90,998,506 (GRCm39)	V427A	probably benign	Het
Vmn1r17	A	T	6: 57,338,337 (GRCm39)	Y9*	probably null	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfand5	C	T	19: 21,253,845 (GRCm39)	T16I	probably damaging	Het
Zfp352	A	T	4: 90,113,177 (GRCm39)	K439M	possibly damaging	Het
Zfp786	G	A	6: 47,797,625 (GRCm39)	H438Y	probably damaging	Het
Zfp808	T	A	13: 62,319,763 (GRCm39)	C331S	probably damaging	Het

Other mutations in Hddc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0841:Hddc3	UTSW	7	79,995,401 (GRCm39)	missense	probably benign
R2411:Hddc3	UTSW	7	79,993,341 (GRCm39)	missense	probably damaging	1.00
R5177:Hddc3	UTSW	7	79,992,914 (GRCm39)	missense	probably damaging	1.00
R5286:Hddc3	UTSW	7	79,993,543 (GRCm39)	missense	probably damaging	0.98
R6044:Hddc3	UTSW	7	79,993,332 (GRCm39)	missense	probably benign	0.00
R6736:Hddc3	UTSW	7	79,992,944 (GRCm39)	missense	possibly damaging	0.79
R6996:Hddc3	UTSW	7	79,993,498 (GRCm39)	missense	possibly damaging	0.79
R9228:Hddc3	UTSW	7	79,993,328 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTCAGATCATGCCATCGC -3'
(R):5'- ATATTCCGGGCCCACCTTAGTG -3'

Sequencing Primer
(F):5'- GCAACTCACGGCCTTGTAC -3'
(R):5'- CACAGACGTTTTTAGCCTGTG -3'

Posted On

2015-11-11