Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Uap1l1'

440012

Institutional Source

Beutler Lab

Gene Symbol

Uap1l1

Ensembl Gene

ENSMUSG00000026956

Gene Name

UDP-N-acteylglucosamine pyrophosphorylase 1-like 1

Synonyms

5730445F03Rik

MMRRC Submission

043285-MU

Accession Numbers

Essential gene?

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

Stock #

R5634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25251501-25255695 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25254145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 271 (C271G)

Ref Sequence

ENSEMBL: ENSMUSP00000099989 (fasta)

Gene Model

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

AlphaFold

Q3TW96

Predicted Effect

probably damaging
Transcript: ENSMUST00000102925
AA Change: C271G

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

SMART Domains

Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956
AA Change: C271G

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

0.9535

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,921 (GRCm39)		probably benign	Het
Aen	A	T	7: 78,552,255 (GRCm39)	T34S	probably benign	Het
Apoh	T	A	11: 108,302,875 (GRCm39)	V280E	probably damaging	Het
Ccdc87	A	G	19: 4,890,693 (GRCm39)	H395R	probably benign	Het
Ccrl2	T	A	9: 110,885,055 (GRCm39)		probably null	Het
Cdh20	T	C	1: 104,902,800 (GRCm39)	F497S	probably damaging	Het
Cfap54	C	A	10: 92,740,125 (GRCm39)		probably benign	Het
Cimap1b	T	A	15: 89,262,410 (GRCm39)	T70S	probably benign	Het
Cipc	T	A	12: 86,999,749 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,381,694 (GRCm39)	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,060,858 (GRCm39)	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,234,325 (GRCm39)		noncoding transcript	Het
Dnah17	T	C	11: 117,943,752 (GRCm39)		probably null	Het
Eepd1	A	T	9: 25,514,849 (GRCm39)	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,292,792 (GRCm39)	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,505,871 (GRCm39)	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,102,373 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpha2	A	G	19: 6,276,890 (GRCm39)	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843 (GRCm39)	I297F	probably damaging	Het
Herc2	G	A	7: 55,856,531 (GRCm39)	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,223,893 (GRCm39)	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,041,828 (GRCm39)	G1131D	probably benign	Het
Il18rap	T	C	1: 40,578,536 (GRCm39)		probably benign	Het
Ino80d	C	A	1: 63,101,442 (GRCm39)		probably benign	Het
Klhl1	T	C	14: 96,477,707 (GRCm39)	T454A	probably damaging	Het
Krt84	C	A	15: 101,437,084 (GRCm39)	V360L	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37	T	C	11: 103,432,840 (GRCm39)	N1267S	possibly damaging	Het
Mapkbp1	A	G	2: 119,803,576 (GRCm39)	N15S	probably damaging	Het
Med13l	T	C	5: 118,698,915 (GRCm39)	F22S	possibly damaging	Het
Mrc2	T	A	11: 105,227,040 (GRCm39)	C548*	probably null	Het
Nacad	T	C	11: 6,552,387 (GRCm39)	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,686,833 (GRCm39)	C527R	probably damaging	Het
Nphp1	A	T	2: 127,601,570 (GRCm39)	C412S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4g16	A	G	2: 111,137,437 (GRCm39)	I296V	probably benign	Het
Per2	C	T	1: 91,372,429 (GRCm39)	C215Y	probably benign	Het
Pias1	T	C	9: 62,803,255 (GRCm39)	T343A	probably benign	Het
Pja2	C	T	17: 64,599,862 (GRCm39)	V541M	probably damaging	Het
Plxna4	G	A	6: 32,214,658 (GRCm39)	Q608*	probably null	Het
Ppil4	T	A	10: 7,690,542 (GRCm39)	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,009,780 (GRCm39)	D8V	probably damaging	Het
Pstk	A	C	7: 130,973,072 (GRCm39)	D57A	probably damaging	Het
Ptprd	T	C	4: 75,990,255 (GRCm39)	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,728,924 (GRCm39)	F159L	probably benign	Het
Rnf103	A	G	6: 71,486,601 (GRCm39)	M411V	probably benign	Het
Scn4a	T	C	11: 106,220,830 (GRCm39)	D943G	probably benign	Het
Sdk2	T	C	11: 113,742,540 (GRCm39)	T790A	probably damaging	Het
Sfr1	T	C	19: 47,722,310 (GRCm39)	L242P	probably damaging	Het
Snx25	T	C	8: 46,494,428 (GRCm39)	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,383,506 (GRCm39)	V183A	probably damaging	Het
Tcf4	C	A	18: 69,769,918 (GRCm39)	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,649,515 (GRCm39)	D531G	probably benign	Het
Ubtf	T	C	11: 102,201,150 (GRCm39)	Y268C	probably damaging	Het
Vinac1	A	T	2: 128,881,406 (GRCm39)	D173E	probably benign	Het
Zfp951	A	T	5: 104,963,155 (GRCm39)	M137K	probably benign	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
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
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'- CAGGGCTGATCTCGCTGTATTC -3'
(R):5'- AGTCCATGGGTATCCTACTCC -3'

Sequencing Primer
(F):5'- TGTATTCCACCACCTGGGG -3'
(R):5'- CTTTCTCCTTTATAGATGGCAACGGG -3'

Posted On

2016-11-08