Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Gcnt7'

659196

Institutional Source

Beutler Lab

Gene Symbol

Gcnt7

Ensembl Gene

ENSMUSG00000074569

Gene Name

glucosaminyl (N-acetyl) transferase family member 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172450313-172458596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172454546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 119 (I119M)

Ref Sequence

ENSEMBL: ENSMUSP00000096659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029005] [ENSMUST00000099060]

AlphaFold

Q3V3K7

Predicted Effect

probably benign
Transcript: ENSMUST00000029005

SMART Domains

Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502

Domain	Start	End	E-Value	Type
Pfam:Rtf2	1	290	1.5e-99	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099060
AA Change: I119M

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096659
Gene: ENSMUSG00000074569
AA Change: I119M

Domain	Start	End	E-Value	Type
low complexity region	31	40	N/A	INTRINSIC
Pfam:Branch	115	377	5.8e-40	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125368
Gene: ENSMUSG00000074569
AA Change: I65M

Domain	Start	End	E-Value	Type
Pfam:Branch	62	285	1.7e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,338,502	I362F	probably damaging	Het
Anks1b	T	A	10: 90,948,631	S1154T	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Cd163l1	G	A	7: 140,224,721	V546M	probably benign	Het
Chd7	T	A	4: 8,859,211	S2434T	possibly damaging	Het
Crybg2	T	C	4: 134,081,203	S1372P	probably damaging	Het
Dock5	A	G	14: 67,793,976	Y1002H	probably benign	Het
Dst	T	C	1: 34,186,001	S1163P	probably damaging	Het
Dusp27	T	C	1: 166,101,161	D294G	probably benign	Het
Fah	A	T	7: 84,601,097	S14T	probably benign	Het
Gja10	G	A	4: 32,602,274	L37F	probably damaging	Het
Gm10750	A	G	2: 149,015,968	V121A	unknown	Het
Klhl25	G	A	7: 75,866,095	V250I	probably benign	Het
Kmt2a	A	C	9: 44,819,515	S200R	possibly damaging	Het
Map1b	T	A	13: 99,435,154	D353V	probably damaging	Het
Myh8	G	A	11: 67,278,915	R20Q	probably damaging	Het
Olfr1262	G	A	2: 90,003,167	V254M	probably benign	Het
Olfr764-ps1	T	C	10: 129,034,023	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Pkn3	A	T	2: 30,079,924		probably null	Het
Ptpn21	T	A	12: 98,680,026	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,949,088		probably null	Het
Sardh	T	A	2: 27,239,645	I263F	probably damaging	Het
Sh3bp5	A	G	14: 31,417,418	V66A	probably benign	Het
Taf4b	T	A	18: 14,822,138	S583T	probably damaging	Het
Tbcb	G	A	7: 30,226,996	P132L	probably benign	Het
Tcirg1	A	G	19: 3,896,324	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,181,826	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 60,970,968	E368G	probably benign	Het
Trdv2-1	T	A	14: 53,946,515	I67N	probably damaging	Het
Unc13c	G	A	9: 73,540,371	T1849I	probably benign	Het
Vav2	G	A	2: 27,271,829	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612	Y517H	possibly damaging	Het
Wdr27	G	A	17: 14,903,537	T558I	possibly damaging	Het
Yeats2	C	T	16: 20,159,176	R137W	probably damaging	Het

Other mutations in Gcnt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01488:Gcnt7	APN	2	172454289	missense	probably damaging	1.00
IGL03127:Gcnt7	APN	2	172454411	nonsense	probably null
IGL03293:Gcnt7	APN	2	172454383	missense	possibly damaging	0.73
R1781:Gcnt7	UTSW	2	172454880	missense	probably benign	0.03
R6468:Gcnt7	UTSW	2	172454073	missense	probably damaging	1.00
R6884:Gcnt7	UTSW	2	172454205	missense	probably damaging	1.00
R8835:Gcnt7	UTSW	2	172454037	missense	probably damaging	1.00
R9562:Gcnt7	UTSW	2	172451260	missense	probably damaging	0.97
R9565:Gcnt7	UTSW	2	172451260	missense	probably damaging	0.97
Z1177:Gcnt7	UTSW	2	172454886	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CTGAGGTTGTCATGAGCCAC -3'
(R):5'- GCTTCTATCCAGATGAACTGTGC -3'

Sequencing Primer
(F):5'- AGGTTGTCATGAGCCACCTTCTG -3'
(R):5'- TATCCAGATGAACTGTGCTCGGC -3'

Posted On

2021-01-18