Mutagenetix > Incidental Mutation

Incidental Mutation 'R1067:Uap1l1'

86037

Institutional Source

Beutler Lab

Gene Symbol

Uap1l1

Ensembl Gene

ENSMUSG00000026956

Gene Name

UDP-N-acteylglucosamine pyrophosphorylase 1-like 1

Synonyms

5730445F03Rik

MMRRC Submission

039153-MU

Accession Numbers

Essential gene?

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

Stock #

R1067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25251501-25255695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25252759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 427 (L427S)

Ref Sequence

ENSEMBL: ENSMUSP00000099989 (fasta)

Gene Model

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

AlphaFold

Q3TW96

Predicted Effect

probably damaging
Transcript: ENSMUST00000102925
AA Change: L427S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956
AA Change: L427S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,957,018 (GRCm39)		probably benign	Het
Adam24	T	A	8: 41,133,793 (GRCm39)	C420*	probably null	Het
Atp12a	G	A	14: 56,610,893 (GRCm39)	G346S	probably damaging	Het
Bpifa3	A	T	2: 153,979,529 (GRCm39)	Q218L	probably damaging	Het
Cntrl	T	C	2: 35,039,034 (GRCm39)		probably benign	Het
Defb41	A	G	1: 18,335,248 (GRCm39)		probably null	Het
Edc4	C	A	8: 106,617,637 (GRCm39)	T1094K	probably damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
G3bp2	A	T	5: 92,211,187 (GRCm39)		probably benign	Het
Herc6	T	A	6: 57,639,204 (GRCm39)	N888K	probably damaging	Het
Iqgap1	G	A	7: 80,373,576 (GRCm39)	T1471M	probably benign	Het
Kpna6	G	T	4: 129,541,896 (GRCm39)	H500Q	probably benign	Het
Krt78	G	A	15: 101,854,896 (GRCm39)	Q972*	probably null	Het
Krtap9-5	T	A	11: 99,839,589 (GRCm39)	C97S	unknown	Het
Mapk10	T	A	5: 103,139,723 (GRCm39)		probably benign	Het
Mybphl	A	G	3: 108,272,319 (GRCm39)	T3A	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Oca2	A	G	7: 55,966,141 (GRCm39)	I378V	probably damaging	Het
Or7a39	T	A	10: 78,715,517 (GRCm39)	C170*	probably null	Het
Pax6	C	A	2: 105,510,646 (GRCm39)	Q2K	probably benign	Het
Plxna2	C	A	1: 194,462,818 (GRCm39)		probably null	Het
Ppp1r13b	A	G	12: 111,801,550 (GRCm39)	L378P	probably damaging	Het
Prkdc	G	A	16: 15,570,646 (GRCm39)	E2310K	probably damaging	Het
Pth2r	G	A	1: 65,411,507 (GRCm39)	G348E	possibly damaging	Het
Rarb	T	C	14: 16,436,769 (GRCm38)	I251V	probably damaging	Het
Rasa2	A	G	9: 96,434,376 (GRCm39)	L637P	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Syt1	A	T	10: 108,472,523 (GRCm39)	D120E	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmbim1	A	G	1: 74,329,905 (GRCm39)		probably benign	Het
Tnfrsf25	G	A	4: 152,202,745 (GRCm39)	C191Y	probably damaging	Het
Tnn	T	C	1: 159,952,968 (GRCm39)	K691E	probably damaging	Het
Trim7	T	A	11: 48,728,646 (GRCm39)	V98E	probably damaging	Het
Tspan3	A	G	9: 56,068,104 (GRCm39)	F15L	probably benign	Het
Upf1	A	C	8: 70,791,053 (GRCm39)	M574R	probably damaging	Het
Ush2a	T	A	1: 188,282,404 (GRCm39)	V1931E	probably benign	Het
Zfp3	T	C	11: 70,663,411 (GRCm39)	S457P	probably damaging	Het

Other mutations in Uap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Uap1l1	APN	2	25,253,816 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCAAGTCTAAGAAGCTGAGCC -3'
(R):5'- ACTCCCAGTTAGGGAAGTGTGGTC -3'

Sequencing Primer
(F):5'- TGAGCCAACGATCACTGG -3'
(R):5'- GGAAGTGTGGTCTCCCCG -3'

Posted On

2013-11-18