Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01527:Uap1l1'

89623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uap1l1

Ensembl Gene

ENSMUSG00000026956

Gene Name

UDP-N-acteylglucosamine pyrophosphorylase 1-like 1

Synonyms

5730445F03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL01527

Quality Score

Status

Chromosome

Chromosomal Location

25251501-25255695 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 25253816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102925]

AlphaFold

Q3TW96

Predicted Effect

probably null
Transcript: ENSMUST00000102925

SMART Domains

Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
Pfam:UDPGP	68	453	2.1e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152537

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	T	17: 35,878,730 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,240,788 (GRCm39)	W884R	possibly damaging	Het
Ahi1	T	C	10: 20,835,984 (GRCm39)		probably benign	Het
Ankfn1	G	T	11: 89,282,465 (GRCm39)	P394Q	probably benign	Het
Cacnb2	T	C	2: 14,989,081 (GRCm39)	I393T	possibly damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Col22a1	T	C	15: 71,778,880 (GRCm39)	E269G	probably damaging	Het
Cyp24a1	A	G	2: 170,338,486 (GRCm39)	L70P	probably damaging	Het
Cyp8b1	T	C	9: 121,744,061 (GRCm39)	K424E	probably damaging	Het
Dicer1	G	A	12: 104,657,869 (GRCm39)	Q1902*	probably null	Het
Dst	T	A	1: 34,286,734 (GRCm39)	L544Q	probably damaging	Het
Esrp2	T	C	8: 106,858,865 (GRCm39)	T591A	probably benign	Het
Gap43	C	T	16: 42,112,516 (GRCm39)	E82K	probably benign	Het
Ift70a1	T	C	2: 75,810,860 (GRCm39)	I408V	probably benign	Het
Kif17	G	A	4: 137,996,397 (GRCm39)	V125I	probably benign	Het
Lancl2	T	C	6: 57,709,307 (GRCm39)	S370P	probably damaging	Het
Macf1	T	C	4: 123,386,953 (GRCm39)	I203V	possibly damaging	Het
Mphosph9	A	G	5: 124,421,687 (GRCm39)		probably benign	Het
Ncapg	A	G	5: 45,829,726 (GRCm39)	I143V	possibly damaging	Het
Nr3c1	A	G	18: 39,619,690 (GRCm39)	V199A	probably benign	Het
Obscn	T	A	11: 58,955,243 (GRCm39)	N3890I	possibly damaging	Het
Or2g7	A	G	17: 38,378,986 (GRCm39)	N308S	probably benign	Het
Or2h2c	A	T	17: 37,422,701 (GRCm39)	Y58N	probably damaging	Het
Or52n5	T	A	7: 104,588,198 (GRCm39)	V155E	possibly damaging	Het
Or8g32	A	G	9: 39,305,114 (GRCm39)	H6R	probably benign	Het
Palmd	C	A	3: 116,720,837 (GRCm39)	E166*	probably null	Het
Pdzd2	T	C	15: 12,445,750 (GRCm39)	E327G	probably damaging	Het
Pex13	T	C	11: 23,606,111 (GRCm39)	T40A	probably benign	Het
Pkd2	T	C	5: 104,646,750 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,474,467 (GRCm39)	T643A	probably damaging	Het
Prlr	T	A	15: 10,329,257 (GRCm39)	D577E	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Slc44a3	A	G	3: 121,320,777 (GRCm39)	C75R	probably damaging	Het
Susd6	A	T	12: 80,921,093 (GRCm39)	N230I	possibly damaging	Het
Tbx10	A	G	19: 4,048,227 (GRCm39)	R251G	probably damaging	Het
Ugt2b5	A	G	5: 87,284,068 (GRCm39)	V308A	possibly damaging	Het
Usp28	C	A	9: 48,937,173 (GRCm39)	H147Q	probably benign	Het
Vmn1r203	T	C	13: 22,708,447 (GRCm39)	I76T	possibly damaging	Het
Vmn2r104	A	G	17: 20,263,158 (GRCm39)	I101T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,006 (GRCm39)	L768H	probably damaging	Het

Other mutations in Uap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Uap1l1	APN	2	25,253,945 (GRCm39)	missense	probably damaging	1.00
R0522:Uap1l1	UTSW	2	25,253,289 (GRCm39)	missense	probably damaging	1.00
R1067:Uap1l1	UTSW	2	25,252,759 (GRCm39)	missense	probably damaging	1.00
R4735:Uap1l1	UTSW	2	25,252,732 (GRCm39)	missense	probably damaging	1.00
R4808:Uap1l1	UTSW	2	25,252,097 (GRCm39)	missense	probably damaging	1.00
R4884:Uap1l1	UTSW	2	25,252,840 (GRCm39)	missense	probably damaging	0.97
R5042:Uap1l1	UTSW	2	25,252,097 (GRCm39)	missense	possibly damaging	0.93
R5560:Uap1l1	UTSW	2	25,252,688 (GRCm39)	missense	probably benign
R5633:Uap1l1	UTSW	2	25,253,361 (GRCm39)	missense	probably benign
R5634:Uap1l1	UTSW	2	25,254,145 (GRCm39)	missense	probably damaging	1.00
R5910:Uap1l1	UTSW	2	25,253,445 (GRCm39)	intron	probably benign
R5973:Uap1l1	UTSW	2	25,254,642 (GRCm39)	missense	possibly damaging	0.92
R6187:Uap1l1	UTSW	2	25,252,741 (GRCm39)	missense	probably damaging	0.98
R6966:Uap1l1	UTSW	2	25,254,950 (GRCm39)	missense	probably damaging	1.00
R7161:Uap1l1	UTSW	2	25,253,292 (GRCm39)	missense	probably damaging	1.00
R7356:Uap1l1	UTSW	2	25,251,696 (GRCm39)	missense	possibly damaging	0.60
R8461:Uap1l1	UTSW	2	25,255,422 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-03