Mutagenetix > Incidental Mutation

Incidental Mutation 'R5308:Hexd'

434504

Institutional Source

Beutler Lab

Gene Symbol

Hexd

Ensembl Gene

ENSMUSG00000039307

Gene Name

hexosaminidase D

Synonyms

Hexdc

MMRRC Submission

042891-MU

Accession Numbers

Essential gene?

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

Stock #

R5308 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121095259-121113481 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121113095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 510 (V510D)

Ref Sequence

ENSEMBL: ENSMUSP00000048479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038709] [ENSMUST00000038831] [ENSMUST00000106115] [ENSMUST00000106117] [ENSMUST00000147490] [ENSMUST00000137299] [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 damaging
Transcript: ENSMUST00000038831
AA Change: V510D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048479
Gene: ENSMUSG00000039307
AA Change: V510D

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

possibly damaging
Transcript: ENSMUST00000106117
AA Change: V437D

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101723
Gene: ENSMUSG00000039307
AA Change: V437D

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: V506D

SMART Domains

Protein: ENSMUSP00000123073
Gene: ENSMUSG00000039307
AA Change: V506D

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: ENSMUST00000133535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149351

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: 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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156214

SMART Domains

Protein: ENSMUSP00000131293
Gene: ENSMUSG00000039294

Domain	Start	End	E-Value	Type
Pfam:DUF4564	1	57	1.1e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 97.7%
10x: 95.4%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	T	C	2: 19,528,892 (GRCm39)	D163G	probably damaging	Het
Abcd4	C	T	12: 84,650,067 (GRCm39)		probably null	Het
Alg9	T	C	9: 50,734,011 (GRCm39)	S570P	possibly damaging	Het
Angptl3	C	A	4: 98,922,723 (GRCm39)	H255N	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Cdc37	A	T	9: 21,052,060 (GRCm39)	D326E	probably benign	Het
Cdk13	T	C	13: 17,946,898 (GRCm39)	K6R	probably damaging	Het
Ces1b	T	C	8: 93,793,645 (GRCm39)	K315E	probably benign	Het
Cfap61	G	A	2: 145,951,908 (GRCm39)	G190S	probably damaging	Het
Cimap3	T	C	3: 105,908,419 (GRCm39)	T107A	probably benign	Het
Ckap4	T	C	10: 84,364,238 (GRCm39)	E275G	probably benign	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Csf3r	A	G	4: 125,929,137 (GRCm39)	D349G	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,012 (GRCm39)		noncoding transcript	Het
Dmbt1	T	A	7: 130,642,751 (GRCm39)	C190S	probably damaging	Het
Dnah11	A	G	12: 118,049,415 (GRCm39)	F1670L	possibly damaging	Het
Dnah5	A	T	15: 28,229,797 (GRCm39)	I144F	possibly damaging	Het
Eno2	C	A	6: 124,744,056 (GRCm39)	V84L	probably damaging	Het
Ercc4	G	T	16: 12,948,028 (GRCm39)	R325L	probably damaging	Het
Fcgr2b	T	G	1: 170,793,279 (GRCm39)	Q250P	probably benign	Het
Garin5a	T	C	7: 44,149,606 (GRCm39)	V109A	probably damaging	Het
Garre1	T	A	7: 33,945,180 (GRCm39)	K355*	probably null	Het
Gcfc2	T	C	6: 81,920,524 (GRCm39)		probably null	Het
Glb1l2	C	T	9: 26,676,055 (GRCm39)	G509D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grn	A	G	11: 102,327,018 (GRCm39)	N160D	possibly damaging	Het
Igfbp1	G	A	11: 7,149,919 (GRCm39)		probably null	Het
Itga11	T	A	9: 62,663,051 (GRCm39)	M589K	probably benign	Het
Itpr1	A	T	6: 108,333,472 (GRCm39)	S51C	probably damaging	Het
Klra3	T	C	6: 130,311,270 (GRCm39)		probably null	Het
Mad2l1	T	C	6: 66,514,675 (GRCm39)		probably null	Het
Matn3	CGGGGCTCGGGGGC	CGGGGC	12: 9,002,308 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,771,244 (GRCm39)	Y939N	probably damaging	Het
Nxpe3	C	T	16: 55,686,834 (GRCm39)	S58N	probably benign	Het
Or1j16	T	A	2: 36,530,706 (GRCm39)	Y218*	probably null	Het
Or3a1c	T	A	11: 74,046,397 (GRCm39)	M139K	probably damaging	Het
Or4c103	T	C	2: 88,513,749 (GRCm39)	E109G	probably benign	Het
Or4k45	C	T	2: 111,394,899 (GRCm39)	A297T	probably damaging	Het
Paics	T	C	5: 77,104,479 (GRCm39)	S35P	probably damaging	Het
Pcnt	A	C	10: 76,192,159 (GRCm39)	Y2717*	probably null	Het
Plekho2	T	A	9: 65,465,957 (GRCm39)	N144Y	probably damaging	Het
Plscr5	T	C	9: 92,080,565 (GRCm39)	F17S	possibly damaging	Het
Prrc2a	C	T	17: 35,380,023 (GRCm39)	R192H	unknown	Het
Rbm27	T	A	18: 42,460,275 (GRCm39)	M735K	probably damaging	Het
Rfc1	T	A	5: 65,436,804 (GRCm39)	K625N	probably damaging	Het
Ric8b	T	A	10: 84,783,611 (GRCm39)	F156L	probably benign	Het
Romo1	C	A	2: 155,986,473 (GRCm39)	A32E	possibly damaging	Het
Rpl26	T	A	11: 68,795,284 (GRCm39)	Y135N	probably damaging	Het
Sacs	T	C	14: 61,429,849 (GRCm39)	V636A	probably benign	Het
Scyl2	A	T	10: 89,477,869 (GRCm39)	I710N	probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc4a1	T	A	11: 102,249,903 (GRCm39)	I154F	probably damaging	Het
Snx11	A	G	11: 96,661,535 (GRCm39)	S157P	probably damaging	Het
Snx18	G	A	13: 113,753,383 (GRCm39)	Q517*	probably null	Het
Stard4	G	T	18: 33,336,678 (GRCm39)	N212K	probably damaging	Het
Strn3	A	G	12: 51,676,168 (GRCm39)	Y454H	probably damaging	Het
Stx17	A	T	4: 48,182,851 (GRCm39)		probably benign	Het
Tas2r121	G	A	6: 132,677,480 (GRCm39)	T164I	possibly damaging	Het
Tbc1d8	T	C	1: 39,428,490 (GRCm39)	Y485C	probably damaging	Het
Tmem45b	T	C	9: 31,340,380 (GRCm39)	M8V	probably damaging	Het
Usp28	T	C	9: 48,948,501 (GRCm39)	F844L	probably damaging	Het
Usp32	T	A	11: 84,908,544 (GRCm39)	N1054I	probably benign	Het
Xpa	T	A	4: 46,185,659 (GRCm39)	E106D	probably benign	Het
Zfp85	C	T	13: 67,896,974 (GRCm39)	C366Y	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
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
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'- CACGGAGGCATGGAATAATACC -3'
(R):5'- ACAGTTGGAGAGCCTGTCTG -3'

Sequencing Primer
(F):5'- CATGGAATAATACCAGCTCCAGGG -3'
(R):5'- AACAGAAATCTTGGTGGTGTCC -3'

Posted On

2016-10-06