Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Glt1d1'

325235

Institutional Source

Beutler Lab

Gene Symbol

Glt1d1

Ensembl Gene

ENSMUSG00000049971

Gene Name

glycosyltransferase 1 domain containing 1

Synonyms

5730455A04Rik

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127709326-127786438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127771346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000113864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118139]

AlphaFold

A4FUP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118139
AA Change: V279A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: V279A

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_1	153	319	8.2e-23	PFAM
Pfam:Glyco_trans_1_4	166	305	8.7e-15	PFAM
Pfam:Glyco_trans_1_2	244	335	8.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137157

Meta Mutation Damage Score

0.2677

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	probably benign	Het

Other mutations in Glt1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Glt1d1	APN	5	127,709,349 (GRCm39)	start codon destroyed	probably null	1.00
IGL01310:Glt1d1	APN	5	127,709,384 (GRCm39)	missense	possibly damaging	0.86
IGL01608:Glt1d1	APN	5	127,741,746 (GRCm39)	missense	possibly damaging	0.56
IGL01738:Glt1d1	APN	5	127,709,419 (GRCm39)	intron	probably benign
IGL02028:Glt1d1	APN	5	127,783,984 (GRCm39)	missense	possibly damaging	0.63
IGL02273:Glt1d1	APN	5	127,734,208 (GRCm39)	splice site	probably benign
IGL02603:Glt1d1	APN	5	127,709,409 (GRCm39)	missense	probably damaging	1.00
IGL02718:Glt1d1	APN	5	127,727,763 (GRCm39)	missense	probably damaging	0.98
IGL02850:Glt1d1	APN	5	127,721,409 (GRCm39)	missense	probably benign	0.00
IGL03328:Glt1d1	APN	5	127,734,183 (GRCm39)	missense	probably benign
R0049:Glt1d1	UTSW	5	127,740,391 (GRCm39)	splice site	probably benign
R0312:Glt1d1	UTSW	5	127,768,134 (GRCm39)	missense	probably damaging	1.00
R0400:Glt1d1	UTSW	5	127,734,139 (GRCm39)	splice site	probably benign
R1838:Glt1d1	UTSW	5	127,755,193 (GRCm39)	missense	probably benign	0.01
R2060:Glt1d1	UTSW	5	127,734,183 (GRCm39)	missense	probably benign
R2262:Glt1d1	UTSW	5	127,734,176 (GRCm39)	missense	probably benign	0.08
R3776:Glt1d1	UTSW	5	127,771,375 (GRCm39)	missense	probably damaging	1.00
R4205:Glt1d1	UTSW	5	127,766,935 (GRCm39)	missense	probably benign	0.32
R4249:Glt1d1	UTSW	5	127,768,176 (GRCm39)	critical splice donor site	probably null
R5044:Glt1d1	UTSW	5	127,721,478 (GRCm39)	missense	probably benign	0.38
R5289:Glt1d1	UTSW	5	127,721,420 (GRCm39)	missense	probably benign	0.11
R5374:Glt1d1	UTSW	5	127,734,148 (GRCm39)	splice site	probably null
R5533:Glt1d1	UTSW	5	127,768,095 (GRCm39)	missense	probably damaging	1.00
R5592:Glt1d1	UTSW	5	127,734,183 (GRCm39)	missense	probably benign	0.01
R5870:Glt1d1	UTSW	5	127,754,344 (GRCm39)	missense	probably damaging	1.00
R5942:Glt1d1	UTSW	5	127,721,534 (GRCm39)	splice site	probably null
R6128:Glt1d1	UTSW	5	127,754,335 (GRCm39)	missense	probably damaging	1.00
R6349:Glt1d1	UTSW	5	127,783,950 (GRCm39)	missense	probably benign	0.10
R6490:Glt1d1	UTSW	5	127,721,360 (GRCm39)	splice site	probably null
R6502:Glt1d1	UTSW	5	127,784,045 (GRCm39)	missense	probably damaging	1.00
R8205:Glt1d1	UTSW	5	127,768,080 (GRCm39)	missense	probably benign	0.05
R9231:Glt1d1	UTSW	5	127,754,341 (GRCm39)	missense	probably damaging	1.00
R9699:Glt1d1	UTSW	5	127,771,364 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTAAATGATAGACGCTCGTGG -3'
(R):5'- AAGTCACTGAGTACGTTGGAC -3'

Sequencing Primer
(F):5'- AGAGGGTCTTTCACAACCTG -3'
(R):5'- GTTGGACGGCTCTACCTCCAC -3'

Posted On

2015-07-06