Mutagenetix > Incidental Mutation

Incidental Mutation 'R5286:Hddc3'

424353

Institutional Source

Beutler Lab

Gene Symbol

Hddc3

Ensembl Gene

ENSMUSG00000030532

Gene Name

HD domain containing 3

Synonyms

1110033O09Rik

MMRRC Submission

042870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5286 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79992852-80000295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79993543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 83 (R83L)

Ref Sequence

ENSEMBL: ENSMUSP00000032747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032747] [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000127997] [ENSMUST00000133728] [ENSMUST00000206122] [ENSMUST00000206480] [ENSMUST00000206074] [ENSMUST00000206089] [ENSMUST00000205768] [ENSMUST00000205531] [ENSMUST00000205744] [ENSMUST00000154428]

AlphaFold

Q9D114

Predicted Effect

probably damaging
Transcript: ENSMUST00000032747
AA Change: R83L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032747
Gene: ENSMUSG00000030532
AA Change: R83L

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: ENSMUST00000032748

SMART Domains

Protein: ENSMUSP00000032748
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	287	505	1.2e-43	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

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

probably benign
Transcript: ENSMUST00000127997

SMART Domains

Protein: ENSMUSP00000114428
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
Pfam:TPR_11	4	74	8.4e-19	PFAM
Pfam:TPR_1	6	36	2.3e-6	PFAM
Pfam:TPR_2	6	37	2.6e-6	PFAM
Pfam:TPR_16	10	82	1e-7	PFAM
Pfam:TPR_1	43	69	4.4e-4	PFAM
Pfam:TPR_2	43	74	3.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133728

SMART Domains

Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	6	39	9.53e-2	SMART
TPR	43	76	5.48e-2	SMART
TPR	77	110	7.45e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141774

Predicted Effect

unknown
Transcript: ENSMUST00000205448
AA Change: R10L

Predicted Effect

probably benign
Transcript: ENSMUST00000206122
AA Change: R83L

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206480
AA Change: R83L

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206074
AA Change: R83L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206089
AA Change: R6L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206032

Predicted Effect

probably benign
Transcript: ENSMUST00000205768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145351

Predicted Effect

probably benign
Transcript: ENSMUST00000205531

Predicted Effect

probably benign
Transcript: ENSMUST00000205744

Predicted Effect

probably benign
Transcript: ENSMUST00000206559

Predicted Effect

probably benign
Transcript: ENSMUST00000154428

SMART Domains

Protein: ENSMUSP00000119665
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	4e-9	BLAST
Blast:ARM	226	266	6e-8	BLAST
Pfam:UNC45-central	287	505	3.5e-44	PFAM
low complexity region	597	608	N/A	INTRINSIC

Meta Mutation Damage Score

0.1185

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,358 (GRCm39)	I417V	probably benign	Het
Adad1	T	C	3: 37,119,399 (GRCm39)	V160A	possibly damaging	Het
Adcy7	A	G	8: 89,051,487 (GRCm39)	E869G	probably damaging	Het
Birc6	G	A	17: 74,977,242 (GRCm39)	A4352T	probably damaging	Het
Brd2	T	A	17: 34,334,205 (GRCm39)	T286S	probably damaging	Het
Bsn	G	T	9: 107,988,123 (GRCm39)		probably benign	Het
Cables1	A	G	18: 12,057,884 (GRCm39)	T335A	probably benign	Het
Cacna1d	A	T	14: 30,072,682 (GRCm39)	S98T	possibly damaging	Het
Ccdc181	A	G	1: 164,105,810 (GRCm39)	Y15C	probably damaging	Het
Dlgap4	T	G	2: 156,587,839 (GRCm39)	V39G	probably damaging	Het
Epb41l3	G	A	17: 69,569,268 (GRCm39)	R504H	probably benign	Het
Fbxo7	T	C	10: 85,857,954 (GRCm39)	L23P	probably damaging	Het
Gm42791	A	C	5: 148,887,178 (GRCm39)		probably benign	Het
Gprc5b	A	T	7: 118,582,910 (GRCm39)	F320I	possibly damaging	Het
Gtf3c1	G	A	7: 125,262,580 (GRCm39)	T1093M	possibly damaging	Het
Iars2	T	C	1: 185,055,318 (GRCm39)		probably benign	Het
Ift25	T	A	4: 107,136,998 (GRCm39)	I132N	probably damaging	Het
Igfn1	T	C	1: 135,895,599 (GRCm39)	K1656E	probably benign	Het
Itk	A	C	11: 46,228,926 (GRCm39)		probably null	Het
Klra6	G	A	6: 129,995,932 (GRCm39)	T142I	probably benign	Het
Knop1	C	T	7: 118,454,993 (GRCm39)	A3T	probably damaging	Het
Lamc3	A	G	2: 31,808,608 (GRCm39)	H788R	probably damaging	Het
Lrif1	A	G	3: 106,639,859 (GRCm39)	R315G	probably damaging	Het
Mfap3l	A	G	8: 61,109,903 (GRCm39)	D93G	probably benign	Het
Ngef	T	C	1: 87,473,552 (GRCm39)	S77G	probably benign	Het
Nt5dc3	T	C	10: 86,640,656 (GRCm39)	S13P	probably benign	Het
Or9s13	T	C	1: 92,548,084 (GRCm39)	V152A	probably benign	Het
Pclo	T	C	5: 14,729,761 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,378,368 (GRCm39)	Q1041*	probably null	Het
Ppl	G	A	16: 4,906,987 (GRCm39)	R1103*	probably null	Het
Ppp4r3b	T	A	11: 29,161,667 (GRCm39)	D680E	probably benign	Het
Rasgrf2	T	G	13: 92,267,941 (GRCm39)	K21T	possibly damaging	Het
Rev1	T	A	1: 38,094,407 (GRCm39)	K1004*	probably null	Het
Rgs9	T	G	11: 109,130,277 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,693 (GRCm39)	L86P	probably damaging	Het
Rps13	A	G	7: 115,933,155 (GRCm39)	Y18H	probably damaging	Het
Rxfp2	T	C	5: 149,958,909 (GRCm39)	F33S	probably damaging	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Stard9	T	A	2: 120,532,428 (GRCm39)	V2895D	probably benign	Het
Syn3	T	C	10: 86,187,428 (GRCm39)	N232S	possibly damaging	Het
Taok3	T	A	5: 117,404,140 (GRCm39)	Y772N	probably damaging	Het
Tspan4	A	G	7: 141,062,483 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,684,530 (GRCm39)		probably benign	Het
Vwa3b	T	A	1: 37,084,120 (GRCm39)	W98R	probably damaging	Het
Vwa5b2	A	T	16: 20,415,058 (GRCm39)	D360V	probably damaging	Het
Wdr73	A	T	7: 80,541,557 (GRCm39)	D328E	probably benign	Het
Xpo5	A	G	17: 46,545,406 (GRCm39)	N824S	probably benign	Het
Zbtb2	C	T	10: 4,318,566 (GRCm39)	G487S	possibly 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
R4741:Hddc3	UTSW	7	79,995,464 (GRCm39)	missense	probably benign	0.23
R5177:Hddc3	UTSW	7	79,992,914 (GRCm39)	missense	probably damaging	1.00
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'- AGGCTGGAATCACTGATATTGTGG -3'
(R):5'- AGAGCATACCTGTAGGGGTG -3'

Sequencing Primer
(F):5'- TACCCTTCTCTGCCAGGAGG -3'
(R):5'- TGCAGCGATTCAGGTCCCTC -3'

Posted On

2016-08-04