Mutagenetix > Incidental Mutation

Incidental Mutation 'R0376:Hexd'

30769

Institutional Source

Beutler Lab

Gene Symbol

Hexd

Ensembl Gene

ENSMUSG00000039307

Gene Name

hexosaminidase D

Synonyms

Hexdc

MMRRC Submission

038582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0376 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121095259-121113481 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 121108991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038709] [ENSMUST00000038831] [ENSMUST00000106115] [ENSMUST00000106117] [ENSMUST00000124768]

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

SMART Domains

Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307

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

SMART Domains

Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307

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

probably benign
Transcript: ENSMUST00000124768

SMART Domains

Protein: ENSMUSP00000122008
Gene: ENSMUSG00000039307

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_20	22	152	8.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128913

Predicted Effect

probably benign
Transcript: ENSMUST00000151495

SMART Domains

Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307

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: ENSMUST00000131009

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.0%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	C	12: 113,508,310 (GRCm39)	Y228H	probably damaging	Het
Als2	A	G	1: 59,254,724 (GRCm39)	F211S	probably benign	Het
Ankrd12	T	A	17: 66,360,004 (GRCm39)	Q11L	probably damaging	Het
Anxa5	T	C	3: 36,514,637 (GRCm39)	R115G	probably damaging	Het
Arhgap10	T	C	8: 78,177,453 (GRCm39)		probably benign	Het
Atp2a3	T	A	11: 72,873,528 (GRCm39)	D782E	probably damaging	Het
Bcr	G	T	10: 74,981,159 (GRCm39)	L659F	probably damaging	Het
Cacna1b	A	G	2: 24,549,015 (GRCm39)		probably benign	Het
Camp	C	T	9: 109,677,467 (GRCm39)	C122Y	probably damaging	Het
Cimip1	G	A	2: 173,370,120 (GRCm39)	E132K	probably benign	Het
Col12a1	A	T	9: 79,600,776 (GRCm39)	S769R	probably benign	Het
Cyp2j6	T	A	4: 96,414,260 (GRCm39)	K335I	probably damaging	Het
Cyp3a11	A	C	5: 145,799,262 (GRCm39)	Y308*	probably null	Het
Flnb	G	A	14: 7,946,014 (GRCm38)		probably null	Het
Frmd4a	G	T	2: 4,577,198 (GRCm39)	M351I	probably damaging	Het
Gabrg2	C	T	11: 41,807,142 (GRCm39)	S365N	possibly damaging	Het
Ggn	T	C	7: 28,872,447 (GRCm39)	V609A	possibly damaging	Het
H60c	T	C	10: 3,210,435 (GRCm39)		probably benign	Het
Igsf9b	A	G	9: 27,245,878 (GRCm39)	T1282A	probably benign	Het
Ikzf4	T	C	10: 128,468,625 (GRCm39)	N618S	probably benign	Het
Ints14	A	G	9: 64,891,272 (GRCm39)	K418E	probably damaging	Het
Iqgap1	T	C	7: 80,373,627 (GRCm39)	E1454G	probably benign	Het
Kif13b	T	C	14: 64,994,853 (GRCm39)		probably benign	Het
Krt71	A	C	15: 101,646,505 (GRCm39)	F328C	probably damaging	Het
Lama2	T	C	10: 26,891,542 (GRCm39)	T2524A	possibly damaging	Het
Mfn2	C	T	4: 147,969,983 (GRCm39)	V363I	probably benign	Het
Mkln1	A	T	6: 31,454,953 (GRCm39)	D496V	probably benign	Het
Or2q1	A	T	6: 42,795,226 (GRCm39)	M274L	probably benign	Het
Patj	T	A	4: 98,457,224 (GRCm39)	I1242N	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plcb2	T	C	2: 118,547,721 (GRCm39)	E502G	probably damaging	Het
Plppr4	G	T	3: 117,116,740 (GRCm39)	H314Q	probably benign	Het
Prkcsh	A	G	9: 21,921,547 (GRCm39)		probably benign	Het
Prr14	C	T	7: 127,075,815 (GRCm39)	H181Y	probably benign	Het
Pus3	A	T	9: 35,477,718 (GRCm39)	M317L	possibly damaging	Het
Pwwp2a	T	A	11: 43,595,499 (GRCm39)	D221E	probably benign	Het
Rbm15	T	C	3: 107,238,254 (GRCm39)	S715G	probably benign	Het
Rbm28	A	G	6: 29,158,927 (GRCm39)		probably benign	Het
Rhobtb2	A	T	14: 70,034,184 (GRCm39)	V347E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Scgb1b27	C	T	7: 33,721,322 (GRCm39)	T70I	possibly damaging	Het
Slc40a1	T	C	1: 45,951,651 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca9	A	G	2: 28,583,672 (GRCm39)	V104A	probably benign	Het
Spag7	T	C	11: 70,560,016 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,505,288 (GRCm39)	D85G	probably damaging	Het
Sun1	A	G	5: 139,212,454 (GRCm39)		probably benign	Het
Tcp11l1	C	A	2: 104,527,850 (GRCm39)		probably benign	Het
Tead3	A	C	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tecpr1	A	T	5: 144,144,294 (GRCm39)	V636E	possibly damaging	Het
Tldc2	T	C	2: 156,937,225 (GRCm39)	W147R	probably damaging	Het
Tmem161b	A	G	13: 84,440,502 (GRCm39)	T125A	probably benign	Het
Trrap	A	G	5: 144,753,149 (GRCm39)	M1825V	probably benign	Het
Ttbk2	A	G	2: 120,608,062 (GRCm39)	F186L	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Zc3h7a	T	C	16: 10,974,066 (GRCm39)	M240V	probably benign	Het
Zc3hc1	G	C	6: 30,372,789 (GRCm39)	S351W	probably damaging	Het
Zfp366	T	C	13: 99,370,759 (GRCm39)	M493T	probably benign	Het
Zfp93	C	T	7: 23,975,286 (GRCm39)	P424S	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
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
R1493: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'- GCTGCAAGCTGTACTTAAAACCCAC -3'
(R):5'- GCTGGAAAGGACCTGGGATGATCTG -3'

Sequencing Primer
(F):5'- acgcctttaatcccagcac -3'
(R):5'- GGATGATCTGGAGCCAGC -3'

Posted On

2013-04-24