Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Uap1'

422306

Institutional Source

Beutler Lab

Gene Symbol

Uap1

Ensembl Gene

ENSMUSG00000026670

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1

Synonyms

ESTM38, AGX1, AgX, SPAG2

MMRRC Submission

042920-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169969507-170002526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 169971000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 464 (C464F)

Ref Sequence

ENSEMBL: ENSMUSP00000106982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027981] [ENSMUST00000111350] [ENSMUST00000111351]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027981
AA Change: C480F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: C480F

Domain	Start	End	E-Value	Type
Pfam:UDPGP	44	471	2e-128	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111350
AA Change: C464F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: C464F

Domain	Start	End	E-Value	Type
Pfam:UDPGP	44	467	5.3e-124	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111351
AA Change: C481F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: C481F

Domain	Start	End	E-Value	Type
Pfam:UDPGP	45	472	4.6e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161492

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Gulo	T	C	14: 66,225,707 (GRCm39)	D373G	probably benign	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Rbpj	A	G	5: 53,799,425 (GRCm39)	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Slc34a3	A	T	2: 25,120,671 (GRCm39)	F419I	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Stk11	A	T	10: 79,962,094 (GRCm39)	T83S	probably benign	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Taf10	T	C	7: 105,390,139 (GRCm39)		probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	probably damaging	Het

Other mutations in Uap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Uap1	APN	1	169,994,281 (GRCm39)	missense	probably benign	0.22
IGL02330:Uap1	APN	1	169,977,896 (GRCm39)	missense	possibly damaging	0.94
IGL03383:Uap1	APN	1	169,986,460 (GRCm39)	missense	probably damaging	1.00
R0382:Uap1	UTSW	1	169,989,051 (GRCm39)	missense	probably benign	0.00
R0696:Uap1	UTSW	1	169,976,843 (GRCm39)	missense	probably benign	0.23
R1055:Uap1	UTSW	1	169,984,480 (GRCm39)	splice site	probably benign
R1463:Uap1	UTSW	1	169,977,952 (GRCm39)	missense	probably benign
R1522:Uap1	UTSW	1	169,978,510 (GRCm39)	critical splice donor site	probably null
R2257:Uap1	UTSW	1	169,986,312 (GRCm39)	splice site	probably benign
R4061:Uap1	UTSW	1	169,986,415 (GRCm39)	missense	possibly damaging	0.71
R4533:Uap1	UTSW	1	169,970,994 (GRCm39)	missense	probably damaging	1.00
R5068:Uap1	UTSW	1	169,989,032 (GRCm39)	missense	probably damaging	0.98
R5712:Uap1	UTSW	1	169,994,414 (GRCm39)	missense	possibly damaging	0.87
R5772:Uap1	UTSW	1	169,988,949 (GRCm39)	missense	probably benign	0.20
R5869:Uap1	UTSW	1	169,978,707 (GRCm39)	critical splice acceptor site	probably null
R6229:Uap1	UTSW	1	169,994,302 (GRCm39)	missense	probably benign
R7216:Uap1	UTSW	1	169,986,472 (GRCm39)	missense	probably damaging	1.00
R8079:Uap1	UTSW	1	169,986,332 (GRCm39)	missense	probably damaging	0.97
R8323:Uap1	UTSW	1	169,978,635 (GRCm39)	missense	probably damaging	1.00
R8854:Uap1	UTSW	1	169,976,984 (GRCm39)	missense	probably damaging	1.00
R9035:Uap1	UTSW	1	169,977,013 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTCCCTGCTCTGTAAAGCTTAC -3'
(R):5'- TTATTGTAGAGGAGGCTCCAGG -3'

Sequencing Primer
(F):5'- GACCTGCATGGGCTAATTA -3'
(R):5'- CAGGGTAGGCTCCATTCTTTAACTAG -3'

Posted On

2016-08-04