Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Slc14a1'

508649

Institutional Source

Beutler Lab

Gene Symbol

Slc14a1

Ensembl Gene

ENSMUSG00000059336

Gene Name

solute carrier family 14 (urea transporter), member 1

Synonyms

2610507K20Rik, UT-B, 3021401A05Rik

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78143306-78185334 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 78153273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091813] [ENSMUST00000160292] [ENSMUST00000160639]

AlphaFold

Q8VHL0

Predicted Effect

probably null
Transcript: ENSMUST00000091813

SMART Domains

Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336

Domain	Start	End	E-Value	Type
Pfam:UT	52	356	1.6e-120	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160292

SMART Domains

Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336

Domain	Start	End	E-Value	Type
Pfam:UT	110	405	6.3e-112	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160639

SMART Domains

Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336

Domain	Start	End	E-Value	Type
Pfam:UT	52	356	1.6e-120	PFAM

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

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 membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,119,196 (GRCm39)	H425Q	probably benign	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly damaging	Het

Other mutations in Slc14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Slc14a1	APN	18	78,147,288 (GRCm39)	missense	probably damaging	1.00
Glen_eyrie	UTSW	18	78,153,273 (GRCm39)	critical splice acceptor site	probably null
R1726:Slc14a1	UTSW	18	78,159,681 (GRCm39)	missense	probably benign	0.21
R1889:Slc14a1	UTSW	18	78,152,912 (GRCm39)	missense	possibly damaging	0.95
R1895:Slc14a1	UTSW	18	78,152,912 (GRCm39)	missense	possibly damaging	0.95
R3946:Slc14a1	UTSW	18	78,154,607 (GRCm39)	missense	probably benign	0.00
R4066:Slc14a1	UTSW	18	78,154,592 (GRCm39)	missense	probably damaging	0.99
R5511:Slc14a1	UTSW	18	78,145,686 (GRCm39)	missense	probably benign	0.01
R5763:Slc14a1	UTSW	18	78,159,629 (GRCm39)	missense	probably benign	0.33
R6228:Slc14a1	UTSW	18	78,159,614 (GRCm39)	missense	probably damaging	1.00
R7157:Slc14a1	UTSW	18	78,145,626 (GRCm39)	missense	probably benign	0.00
R7486:Slc14a1	UTSW	18	78,154,739 (GRCm39)	missense	probably benign	0.00
R7657:Slc14a1	UTSW	18	78,156,879 (GRCm39)	critical splice donor site	probably null
R8010:Slc14a1	UTSW	18	78,159,704 (GRCm39)	missense	probably benign	0.09
R8028:Slc14a1	UTSW	18	78,159,727 (GRCm39)	missense	probably benign	0.00
R8322:Slc14a1	UTSW	18	78,145,656 (GRCm39)	missense	possibly damaging	0.73
R8347:Slc14a1	UTSW	18	78,154,646 (GRCm39)	missense	probably benign
R8996:Slc14a1	UTSW	18	78,156,911 (GRCm39)	missense	possibly damaging	0.47
R9058:Slc14a1	UTSW	18	78,145,785 (GRCm39)	critical splice acceptor site	probably null
R9183:Slc14a1	UTSW	18	78,154,598 (GRCm39)	missense	probably benign	0.04
R9490:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9602:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9603:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9604:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9605:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9607:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9609:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9658:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9660:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9661:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9663:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9728:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9730:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9731:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9733:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
R9788:Slc14a1	UTSW	18	78,152,807 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc14a1	UTSW	18	78,147,275 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCTGAAAGTCTTATGCTCAC -3'
(R):5'- CCTCACAGTGGCCAAGTATC -3'

Sequencing Primer
(F):5'- GAAAGTCTTATGCTCACCCGCG -3'
(R):5'- TCACAGTGGCCAAGTATCAGAGC -3'

Posted On

2018-03-15