Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Hexd'

165576

Institutional Source

Beutler Lab

Gene Symbol

Hexd

Ensembl Gene

ENSMUSG00000039307

Gene Name

hexosaminidase D

Synonyms

Hexdc

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121095259-121113481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121112093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 438 (I438V)

Ref Sequence

ENSEMBL: ENSMUSP00000048479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038709] [ENSMUST00000038831] [ENSMUST00000106115] [ENSMUST00000106117] [ENSMUST00000137299] [ENSMUST00000147490] [ENSMUST00000169393]

AlphaFold

Q3U4H6

Predicted Effect

probably benign
Transcript: ENSMUST00000038709

SMART Domains

Protein: ENSMUSP00000042277
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	187	1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038831
AA Change: I438V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: I438V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	30	223	2.9e-12	PFAM
low complexity region	528	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106115

SMART Domains

Protein: ENSMUSP00000101721
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	2	184	3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106117
AA Change: I365V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: I365V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	31	229	1.7e-18	PFAM
low complexity region	455	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124761

SMART Domains

Protein: ENSMUSP00000116406
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	20	194	6.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128913

Predicted Effect

unknown
Transcript: ENSMUST00000151495
AA Change: I434V

SMART Domains

Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: I434V

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	27	220	3.1e-12	PFAM
low complexity region	525	535	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133535

Predicted Effect

probably benign
Transcript: ENSMUST00000137299

SMART Domains

Protein: ENSMUSP00000120541
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	150	9.9e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147490

SMART Domains

Protein: ENSMUSP00000117829
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	132	7.2e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169393

SMART Domains

Protein: ENSMUSP00000127260
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	51	6.9e-20	PFAM
low complexity region	67	78	N/A	INTRINSIC

Meta Mutation Damage Score

0.0882

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	probably damaging	Het

Other mutations in Hexd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Hexd	APN	11	121,111,986 (GRCm39)	missense	probably benign	0.35
IGL01981:Hexd	APN	11	121,107,819 (GRCm39)	missense	possibly damaging	0.93
R0360:Hexd	UTSW	11	121,102,969 (GRCm39)	missense	probably benign	0.18
R0364:Hexd	UTSW	11	121,102,969 (GRCm39)	missense	probably benign	0.18
R0376:Hexd	UTSW	11	121,108,991 (GRCm39)	splice site	probably benign
R1148:Hexd	UTSW	11	121,112,093 (GRCm39)	missense	probably benign	0.09
R1148:Hexd	UTSW	11	121,112,093 (GRCm39)	missense	probably benign	0.09
R1883:Hexd	UTSW	11	121,098,524 (GRCm39)	missense	probably benign	0.00
R4021:Hexd	UTSW	11	121,108,987 (GRCm39)	critical splice donor site	probably null
R4163:Hexd	UTSW	11	121,111,975 (GRCm39)	missense	probably benign	0.01
R4939:Hexd	UTSW	11	121,098,542 (GRCm39)	missense	probably benign
R5308:Hexd	UTSW	11	121,113,095 (GRCm39)	missense	probably damaging	1.00
R5716:Hexd	UTSW	11	121,112,388 (GRCm39)	missense	probably benign	0.03
R6127:Hexd	UTSW	11	121,107,825 (GRCm39)	missense	possibly damaging	0.89
R6154:Hexd	UTSW	11	121,112,097 (GRCm39)	missense	probably benign	0.02
R6921:Hexd	UTSW	11	121,113,107 (GRCm39)	missense	probably damaging	0.98
R6928:Hexd	UTSW	11	121,102,880 (GRCm39)	missense	possibly damaging	0.82
R6939:Hexd	UTSW	11	121,113,164 (GRCm39)	missense	probably benign	0.09
R7125:Hexd	UTSW	11	121,095,496 (GRCm39)	unclassified	probably benign
R7522:Hexd	UTSW	11	121,108,923 (GRCm39)	missense	possibly damaging	0.61
R8989:Hexd	UTSW	11	121,109,136 (GRCm39)	intron	probably benign
R9694:Hexd	UTSW	11	121,107,813 (GRCm39)	missense	probably damaging	1.00
Z1176:Hexd	UTSW	11	121,106,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCATAGCACTCAAAGGTCAGG -3'
(R):5'- GCAAATCCAGACAGTGTCAGTGGAG -3'

Sequencing Primer
(F):5'- ctctctgagcacttctgcc -3'
(R):5'- CAGTGTCAGTGGAGCCAGTG -3'

Posted On

2014-03-28