Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Upk1a'

21164

Institutional Source

Beutler Lab

Gene Symbol

Upk1a

Ensembl Gene

ENSMUSG00000006313

Gene Name

uroplakin 1A

Synonyms

Upk1, 1110031P12Rik, Tspan21

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

30302517-30312159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30311819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 25 (I25N)

Ref Sequence

ENSEMBL: ENSMUSP00000006476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006476] [ENSMUST00000075738] [ENSMUST00000208838]

AlphaFold

Q9D132

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006476
AA Change: I25N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006476
Gene: ENSMUSG00000006313
AA Change: I25N

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	14	257	1.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075738

SMART Domains

Protein: ENSMUSP00000075150
Gene: ENSMUSG00000036751

Domain	Start	End	E-Value	Type
Pfam:COX6B	19	83	1.9e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208352

Predicted Effect

probably benign
Transcript: ENSMUST00000208838

Meta Mutation Damage Score

0.4163

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		probably benign	Het

Other mutations in Upk1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02901:Upk1a	APN	7	30,303,204 (GRCm39)	missense	possibly damaging	0.94
IGL03250:Upk1a	APN	7	30,306,403 (GRCm39)	missense	possibly damaging	0.57
R1480:Upk1a	UTSW	7	30,306,311 (GRCm39)	missense	probably benign
R1566:Upk1a	UTSW	7	30,309,145 (GRCm39)	missense	possibly damaging	0.71
R4669:Upk1a	UTSW	7	30,304,554 (GRCm39)	missense	probably benign	0.22
R6019:Upk1a	UTSW	7	30,311,810 (GRCm39)	critical splice donor site	probably null
R7113:Upk1a	UTSW	7	30,309,236 (GRCm39)	missense	probably damaging	0.98
R7434:Upk1a	UTSW	7	30,306,617 (GRCm39)	missense	probably damaging	0.99
R8428:Upk1a	UTSW	7	30,303,043 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGATCCACAAGAAGGATTCCCAGAG -3'
(R):5'- AGAAGGCTCACTGCTAAGCTGTTG -3'

Sequencing Primer
(F):5'- GAACAGGTTGCTCCCTCTGTAAG -3'
(R):5'- ACTGCTAAGCTGTTGGACTC -3'

Posted On

2013-04-11