Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Uap1'

675153

Institutional Source

Beutler Lab

Gene Symbol

Uap1

Ensembl Gene

ENSMUSG00000026670

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1

Synonyms

ESTM38, AGX1, AgX, SPAG2

MMRRC Submission

068676-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

169969507-170002526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 169976984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 405 (P405Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106983 (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: P405Q

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

SMART Domains

Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: P405Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111350
AA Change: P405Q

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

SMART Domains

Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: P405Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111351
AA Change: P405Q

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

SMART Domains

Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: P405Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Il2rb	T	C	15: 78,369,953 (GRCm39)	T229A	probably benign	Het
Ildr1	T	A	16: 36,535,910 (GRCm39)	Y142N	probably damaging	Het
Kcnv2	A	T	19: 27,311,258 (GRCm39)	T542S	probably benign	Het
Kif26b	G	A	1: 178,743,948 (GRCm39)	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or52ab7	T	C	7: 102,978,023 (GRCm39)	I110T	probably damaging	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly 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
R5341:Uap1	UTSW	1	169,971,000 (GRCm39)	missense	probably damaging	1.00
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
R9035:Uap1	UTSW	1	169,977,013 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGGTCACTTTACATCAGCAAC -3'
(R):5'- TGATCACCTGAAATTGGCTGAAG -3'

Sequencing Primer
(F):5'- GTCACTTTACATCAGCAACTACTTAC -3'
(R):5'- TTGGCTGAAGAAACCTTGACACTG -3'

Posted On

2021-07-15