Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Glt1d1'

73623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glt1d1

Ensembl Gene

ENSMUSG00000049971

Gene Name

glycosyltransferase 1 domain containing 1

Synonyms

5730455A04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

127709326-127786438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127709384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000113864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118139] [ENSMUST00000155321]

AlphaFold

A4FUP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118139
AA Change: T13A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: T13A

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: ENSMUST00000137157

Predicted Effect

probably benign
Transcript: ENSMUST00000144603

SMART Domains

Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
Pfam:PTR2	7	127	2.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155321

SMART Domains

Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416

Domain	Start	End	E-Value	Type
Pfam:PTR2	7	105	1e-31	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cndp2	G	T	18: 84,689,002 (GRCm39)	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,551,956 (GRCm39)	D322G	probably benign	Het
Crybg1	A	T	10: 43,851,054 (GRCm39)	S1606T	possibly damaging	Het
Crybg1	A	G	10: 43,879,596 (GRCm39)	S531P	probably damaging	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,676,301 (GRCm39)	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,434,116 (GRCm39)	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly damaging	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
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
R4379:Glt1d1	UTSW	5	127,771,346 (GRCm39)	missense	possibly damaging	0.73
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

Posted On

2013-10-07