Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01608:Glt1d1'

91829

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 #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

127709326-127786438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127741746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 148 (N148S)

Ref Sequence

ENSEMBL: ENSMUSP00000113864 (fasta)

Gene Model

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

AlphaFold

A4FUP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118139
AA Change: N148S

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: N148S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,038,158 (GRCm39)	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,298,601 (GRCm39)	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,092,535 (GRCm39)	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,592,855 (GRCm39)	S311P	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Atf2	G	T	2: 73,649,422 (GRCm39)	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,970,479 (GRCm39)	R74*	probably null	Het
Brpf3	T	C	17: 29,040,491 (GRCm39)	S971P	probably benign	Het
Btn1a1	T	C	13: 23,645,778 (GRCm39)	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,113 (GRCm39)	A87V	possibly damaging	Het
Celf4	A	G	18: 25,630,560 (GRCm39)	L376P	probably damaging	Het
Chrm3	G	A	13: 9,928,634 (GRCm39)	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,321,626 (GRCm39)	R961C	probably damaging	Het
Cr2	A	G	1: 194,837,528 (GRCm39)	V1190A	possibly damaging	Het
Dop1a	T	A	9: 86,389,614 (GRCm39)	S515T	probably benign	Het
Eprs1	T	A	1: 185,117,311 (GRCm39)		probably benign	Het
Fbn2	G	T	18: 58,186,776 (GRCm39)	Y1708*	probably null	Het
Gm20425	T	A	9: 103,068,293 (GRCm39)	I44F	probably damaging	Het
Gpr22	T	A	12: 31,758,779 (GRCm39)	K411*	probably null	Het
Ipo11	A	G	13: 106,971,002 (GRCm39)		probably benign	Het
Klri1	T	A	6: 129,675,130 (GRCm39)	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,559,809 (GRCm39)	V950M	probably damaging	Het
Knop1	T	C	7: 118,445,019 (GRCm39)	K315R	probably benign	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lrrc32	T	A	7: 98,148,564 (GRCm39)	V448D	probably benign	Het
Met	T	C	6: 17,558,729 (GRCm39)	V1119A	probably damaging	Het
Minar1	T	C	9: 89,478,551 (GRCm39)	T832A	probably benign	Het
Mipep	T	A	14: 61,039,679 (GRCm39)	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,207,747 (GRCm39)	T81A	probably benign	Het
Mtbp	G	T	15: 55,421,085 (GRCm39)	E24*	probably null	Het
Muc5b	C	T	7: 141,400,174 (GRCm39)	T476I	unknown	Het
Mup6	C	T	4: 60,006,021 (GRCm39)	T163I	probably benign	Het
Myo1g	T	A	11: 6,466,780 (GRCm39)	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,778,119 (GRCm39)	K1292*	probably null	Het
Nbeal1	T	A	1: 60,281,694 (GRCm39)		probably benign	Het
Nck1	C	A	9: 100,379,440 (GRCm39)	R270S	probably benign	Het
Neb	T	C	2: 52,060,548 (GRCm39)	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,343,357 (GRCm39)	L96*	probably null	Het
Or11g1	A	T	14: 50,651,910 (GRCm39)	H303L	probably benign	Het
Or4a77	A	T	2: 89,486,835 (GRCm39)		probably benign	Het
Or51l14	A	T	7: 103,101,011 (GRCm39)	I156F	probably benign	Het
Or5t18	A	C	2: 86,636,769 (GRCm39)	Y191*	probably null	Het
Padi2	A	G	4: 140,659,541 (GRCm39)	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,803 (GRCm39)	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,489,978 (GRCm39)	D552G	probably damaging	Het
Peli3	A	G	19: 4,982,855 (GRCm39)	I270T	probably damaging	Het
Phf20	A	G	2: 156,118,516 (GRCm39)	M407V	probably benign	Het
Ppm1h	C	T	10: 122,777,185 (GRCm39)	R103*	probably null	Het
Rangap1	C	T	15: 81,593,705 (GRCm39)	V457M	probably benign	Het
Scube2	A	G	7: 109,442,461 (GRCm39)	V257A	probably benign	Het
Shc1	C	A	3: 89,332,156 (GRCm39)	Q204K	probably damaging	Het
Slc6a4	T	A	11: 76,917,961 (GRCm39)	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,923,439 (GRCm39)	F7L	probably benign	Het
St6galnac4	T	A	2: 32,484,098 (GRCm39)	C99S	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Supt6	A	T	11: 78,116,309 (GRCm39)	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 192,869,418 (GRCm39)	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,581,560 (GRCm39)	I287F	probably damaging	Het
Zmym2	C	A	14: 57,185,472 (GRCm39)	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably 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
IGL01310:Glt1d1	APN	5	127,709,384 (GRCm39)	missense	possibly damaging	0.86
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

2013-12-09