Mutagenetix > Incidental Mutations

Incidental Mutation 'R0382:Uap1'

30992

Institutional Source

Beutler Lab

Gene Symbol

Uap1

Ensembl Gene

ENSMUSG00000026670

Gene Name

UDP-N-acetylglucosamine pyrophosphorylase 1

Synonyms

ESTM38, SPAG2, AgX, AGX1

MMRRC Submission

038588-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.611) question?

Stock #

R0382 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

170141938-170174957 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 170161482 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 124 (M124L)

Ref Sequence

ENSEMBL: ENSMUSP00000106982 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027981
AA Change: M124L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: M124L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111350
AA Change: M124L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: M124L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111351
AA Change: M124L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: M124L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191797

Meta Mutation Damage Score

0.0810

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,946,919	Q266L	probably benign	Het
Abca13	T	C	11: 9,636,650		probably benign	Het
Adap2	T	C	11: 80,178,385		probably benign	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Brinp1	T	C	4: 68,762,308	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,829,218	P967T	probably damaging	Het
Ces1b	T	C	8: 93,076,052		probably benign	Het
Ckm	T	C	7: 19,421,384	*382Q	probably null	Het
Clec14a	A	G	12: 58,268,617	V73A	probably damaging	Het
Cmya5	A	T	13: 93,092,748	V1944E	probably benign	Het
Col6a6	T	A	9: 105,755,555	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,343	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672	N161S	probably damaging	Het
Dnah17	T	C	11: 118,128,996	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,901,769	V388A	possibly damaging	Het
Fat3	A	G	9: 15,959,756	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,481,060	*401R	probably null	Het
Fbxo5	G	T	10: 5,801,176	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,570,953		probably benign	Het
Fstl3	T	C	10: 79,777,307	S3P	probably benign	Het
Gpatch1	T	C	7: 35,301,655	D309G	probably damaging	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Klk6	A	G	7: 43,829,245	D192G	probably benign	Het
Lrp6	A	G	6: 134,467,668	S1080P	probably damaging	Het
Lztfl1	T	C	9: 123,707,906		probably null	Het
Mov10l1	A	G	15: 88,985,593	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,906,913	R62H	probably damaging	Het
Obscn	T	C	11: 59,040,306	T5835A	probably damaging	Het
Olfr1052	A	G	2: 86,298,593	Y259C	probably damaging	Het
Olfr1183	A	T	2: 88,461,725	R147S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,126	Y95*	probably null	Het
Olfr792	T	C	10: 129,541,014	I159T	probably benign	Het
P2rx2	T	A	5: 110,341,179	E289V	probably benign	Het
Patl1	T	A	19: 11,925,232		probably null	Het
Ptprf	A	G	4: 118,223,394		probably benign	Het
Qrfpr	C	T	3: 36,180,969	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,645,443	D540E	probably damaging	Het
Rbm45	T	A	2: 76,370,211	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,125,899		probably benign	Het
Sgsm3	G	A	15: 81,008,314	W280*	probably null	Het
Slc9a9	A	T	9: 94,685,217	H113L	probably benign	Het
Slc9b2	G	T	3: 135,318,422	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 83,029,534		noncoding transcript	Het
Slfn8	T	A	11: 83,004,556	I475F	probably damaging	Het
Stox2	A	G	8: 47,203,284		probably benign	Het
Strbp	A	T	2: 37,600,826	N472K	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tmem39a	A	G	16: 38,591,398		probably benign	Het
Trpc4ap	A	G	2: 155,636,230	L664P	probably damaging	Het
Usp48	A	G	4: 137,621,218	N536S	probably benign	Het
Usp50	T	A	2: 126,777,928	I155F	probably damaging	Het
Utp4	T	C	8: 106,922,935	I672T	probably benign	Het
Vmn1r94	A	T	7: 20,167,653	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,483,099	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,847,597	Y395C	probably damaging	Het
Vps41	C	A	13: 18,827,727	H335N	probably benign	Het

Other mutations in Uap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Uap1	APN	1	170166712	missense	probably benign	0.22
IGL02330:Uap1	APN	1	170150327	missense	possibly damaging	0.94
IGL03383:Uap1	APN	1	170158891	missense	probably damaging	1.00
R0696:Uap1	UTSW	1	170149274	missense	probably benign	0.23
R1055:Uap1	UTSW	1	170156911	splice site	probably benign
R1463:Uap1	UTSW	1	170150383	missense	probably benign
R1522:Uap1	UTSW	1	170150941	critical splice donor site	probably null
R2257:Uap1	UTSW	1	170158743	splice site	probably benign
R4061:Uap1	UTSW	1	170158846	missense	possibly damaging	0.71
R4533:Uap1	UTSW	1	170143425	missense	probably damaging	1.00
R5068:Uap1	UTSW	1	170161463	missense	probably damaging	0.98
R5341:Uap1	UTSW	1	170143431	missense	probably damaging	1.00
R5712:Uap1	UTSW	1	170166845	missense	possibly damaging	0.87
R5772:Uap1	UTSW	1	170161380	missense	probably benign	0.20
R5869:Uap1	UTSW	1	170151138	critical splice acceptor site	probably null
R6229:Uap1	UTSW	1	170166733	missense	probably benign
R7216:Uap1	UTSW	1	170158903	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATCTCTCCACAGATCGCCGAGC -3'
(R):5'- TCCAACCAGGAAGTTACCCAGGAAG -3'

Sequencing Primer
(F):5'- AAGTGTGCCCTCTTGTCAG -3'
(R):5'- actgaacttggtccctcttg -3'

Posted On

2013-04-24