Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Hexdc'

313254

Institutional Source

Beutler Lab

Gene Symbol

Hexdc

Ensembl Gene

ENSMUSG00000039307

Gene Name

hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing

Synonyms

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121204433-121222655 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 121218161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000131009

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178		probably null	Het
Adgrf5	A	T	17: 43,430,714		probably benign	Het
Atp11a	A	G	8: 12,842,938	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238		probably null	Het
Csnk2a1	C	T	2: 152,258,689	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434		probably null	Het
Ddias	G	T	7: 92,861,478	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920		probably null	Het
Dock9	T	C	14: 121,626,912	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Fam107b	G	A	2: 3,778,474	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,941,799	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734		probably null	Het
Flywch2	G	A	17: 23,777,039	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923	R455W	probably damaging	Het
Gm11492	A	G	11: 87,567,280	E160G	probably damaging	Het
Got2	T	G	8: 95,877,753	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930	Q111L	probably damaging	Het
Igf2r	T	A	17: 12,748,751	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139		probably null	Het
Krit1	T	A	5: 3,832,132	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916		probably null	Het
Lilra6	G	T	7: 3,911,418	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305		probably null	Het
Slc22a2	T	C	17: 12,584,489	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Spag17	A	T	3: 100,049,230	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206	W493R	probably damaging	Het
Wdr72	G	A	9: 74,151,593	V323I	probably benign	Het
Zfp488	T	A	14: 33,971,153	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036	T108A	probably benign	Het
Znrf3	T	C	11: 5,281,278	D745G	possibly damaging	Het

Other mutations in Hexdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Hexdc	APN	11	121221160	missense	probably benign	0.35
IGL01981:Hexdc	APN	11	121216993	missense	possibly damaging	0.93
R0360:Hexdc	UTSW	11	121212143	missense	probably benign	0.18
R0364:Hexdc	UTSW	11	121212143	missense	probably benign	0.18
R0376:Hexdc	UTSW	11	121218165	splice site	probably benign
R1148:Hexdc	UTSW	11	121221267	missense	probably benign	0.09
R1148:Hexdc	UTSW	11	121221267	missense	probably benign	0.09
R1493:Hexdc	UTSW	11	121221267	missense	probably benign	0.09
R1883:Hexdc	UTSW	11	121207698	missense	probably benign	0.00
R4163:Hexdc	UTSW	11	121221149	missense	probably benign	0.01
R4939:Hexdc	UTSW	11	121207716	missense	probably benign
R5308:Hexdc	UTSW	11	121222269	missense	probably damaging	1.00
R5716:Hexdc	UTSW	11	121221562	missense	probably benign	0.03
R6127:Hexdc	UTSW	11	121216999	missense	possibly damaging	0.89
R6154:Hexdc	UTSW	11	121221271	missense	probably benign	0.02
R6921:Hexdc	UTSW	11	121222281	missense	probably damaging	0.98
R6928:Hexdc	UTSW	11	121212054	missense	possibly damaging	0.82
R6939:Hexdc	UTSW	11	121222338	missense	probably benign	0.09
R7125:Hexdc	UTSW	11	121204670	unclassified	probably benign
R7522:Hexdc	UTSW	11	121218097	missense	possibly damaging	0.61
R8989:Hexdc	UTSW	11	121218310	intron	probably benign
R9694:Hexdc	UTSW	11	121216987	missense	probably damaging	1.00
Z1176:Hexdc	UTSW	11	121215237	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTAGACCTGATGAGATGGTTC -3'
(R):5'- AAGGACCTGGGATGATCTGG -3'

Sequencing Primer
(F):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
(R):5'- GGGATTCCATGCCAGGACAG -3'

Posted On

2015-04-30