Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Gtdc1'

513454

Institutional Source

Beutler Lab

Gene Symbol

Gtdc1

Ensembl Gene

ENSMUSG00000036890

Gene Name

glycosyltransferase-like domain containing 1

Synonyms

E330008O22Rik

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

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

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44454424-44817669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44646334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 98 (V98A)

Ref Sequence

ENSEMBL: ENSMUSP00000120593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000146694] [ENSMUST00000148279] [ENSMUST00000154744]

AlphaFold

Q8BW56

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049051
AA Change: V39A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: V39A

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	108	1.4e-44	PFAM
Pfam:Glycos_transf_1	208	360	4.9e-13	PFAM
Pfam:Glyco_trans_1_4	210	348	2.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112810
AA Change: V98A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: V98A

Domain	Start	End	E-Value	Type
Pfam:DUF3524	2	167	1.3e-74	PFAM
Pfam:Glycos_transf_1	266	444	1.3e-10	PFAM
Pfam:Glyco_trans_1_4	269	407	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129240

Predicted Effect

probably benign
Transcript: ENSMUST00000130991

SMART Domains

Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	87	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146694
AA Change: V98A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
AA Change: V98A

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	116	1e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148279
AA Change: V98A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120593
Gene: ENSMUSG00000036890
AA Change: V98A

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	167	8.7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148786

Predicted Effect

probably damaging
Transcript: ENSMUST00000154744
AA Change: V98A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119239
Gene: ENSMUSG00000036890
AA Change: V98A

Domain	Start	End	E-Value	Type
Pfam:DUF3524	1	115	2.3e-44	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Atxn10	T	C	15: 85,277,586 (GRCm39)	F351S	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	probably damaging	Het

Other mutations in Gtdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Gtdc1	APN	2	44,481,891 (GRCm39)	critical splice donor site	probably null
IGL02133:Gtdc1	APN	2	44,465,455 (GRCm39)	missense	probably damaging	1.00
IGL02465:Gtdc1	APN	2	44,460,435 (GRCm39)	missense	probably damaging	1.00
IGL02488:Gtdc1	APN	2	44,715,451 (GRCm39)	missense	probably benign	0.38
IGL02835:Gtdc1	UTSW	2	44,646,324 (GRCm39)	nonsense	probably null
K3955:Gtdc1	UTSW	2	44,642,233 (GRCm39)	critical splice acceptor site	probably null
R0121:Gtdc1	UTSW	2	44,455,550 (GRCm39)	splice site	probably benign
R0270:Gtdc1	UTSW	2	44,642,186 (GRCm39)	missense	possibly damaging	0.94
R0490:Gtdc1	UTSW	2	44,525,052 (GRCm39)	missense	probably benign	0.03
R1506:Gtdc1	UTSW	2	44,465,506 (GRCm39)	missense	possibly damaging	0.65
R1889:Gtdc1	UTSW	2	44,481,926 (GRCm39)	missense	probably damaging	1.00
R1944:Gtdc1	UTSW	2	44,642,198 (GRCm39)	missense	possibly damaging	0.95
R3724:Gtdc1	UTSW	2	44,646,319 (GRCm39)	missense	probably damaging	0.96
R4134:Gtdc1	UTSW	2	44,715,430 (GRCm39)	missense	probably damaging	1.00
R4416:Gtdc1	UTSW	2	44,465,602 (GRCm39)	splice site	probably null
R4666:Gtdc1	UTSW	2	44,481,937 (GRCm39)	missense	probably benign	0.05
R4732:Gtdc1	UTSW	2	44,679,067 (GRCm39)	intron	probably benign
R4947:Gtdc1	UTSW	2	44,481,968 (GRCm39)	missense	probably null	0.01
R5474:Gtdc1	UTSW	2	44,646,379 (GRCm39)	missense	probably damaging	1.00
R5911:Gtdc1	UTSW	2	44,642,076 (GRCm39)	missense	probably benign	0.41
R6809:Gtdc1	UTSW	2	44,715,396 (GRCm39)	missense	probably damaging	1.00
R6809:Gtdc1	UTSW	2	44,465,563 (GRCm39)	nonsense	probably null
R7270:Gtdc1	UTSW	2	44,525,322 (GRCm39)	missense	probably benign	0.01
R7581:Gtdc1	UTSW	2	44,680,017 (GRCm39)	splice site	probably null
R8547:Gtdc1	UTSW	2	44,678,993 (GRCm39)	intron	probably benign
R8951:Gtdc1	UTSW	2	44,679,030 (GRCm39)	intron	probably benign
R8997:Gtdc1	UTSW	2	44,715,386 (GRCm39)	missense	probably benign	0.02
R9796:Gtdc1	UTSW	2	44,715,386 (GRCm39)	missense	probably benign	0.02
X0063:Gtdc1	UTSW	2	44,460,459 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCCATAGCTTTCTCCTG -3'
(R):5'- ACTGTGTGAGACTGCTTCTGC -3'

Sequencing Primer
(F):5'- GGCCTGTGTATATGCACCC -3'
(R):5'- ACAAATTTCTCTTGGGGTGGAAAG -3'

Posted On

2018-04-27