Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Slc14a1'

731588

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78143306-78185334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78152807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 367 (A367S)

Ref Sequence

ENSEMBL: ENSMUSP00000125114 (fasta)

Gene Model

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

AlphaFold

Q8VHL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091813
AA Change: A311S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: A311S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160292
AA Change: A367S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: A367S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160639
AA Change: A311S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: A311S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 15,712,825 (GRCm39)		probably benign	Het
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Adam34l	T	C	8: 44,079,186 (GRCm39)	N346S	possibly damaging	Het
Alpi	C	T	1: 87,028,516 (GRCm39)	A125T	probably benign	Het
Alppl2	T	A	1: 87,014,957 (GRCm39)	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,901,294 (GRCm39)	L836*	probably null	Het
Arv1	T	C	8: 125,458,658 (GRCm39)	Y261H	probably damaging	Het
Atf6	C	T	1: 170,662,402 (GRCm39)	S286N	probably benign	Het
Atl3	G	A	19: 7,509,705 (GRCm39)	G478R	probably damaging	Het
Avil	C	T	10: 126,843,711 (GRCm39)	R184C	probably damaging	Het
Bcl6b	A	G	11: 70,119,323 (GRCm39)	I131T	probably damaging	Het
Bltp1	T	A	3: 37,102,732 (GRCm39)	M1437K		Het
Catsper3	T	C	13: 55,946,752 (GRCm39)	S150P	probably damaging	Het
Cd7	A	G	11: 120,928,637 (GRCm39)	S132P	probably benign	Het
Cfh	T	C	1: 140,016,533 (GRCm39)	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,621,272 (GRCm39)	K601Q	probably benign	Het
Cp	A	G	3: 20,033,126 (GRCm39)	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,507,529 (GRCm39)	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,803,170 (GRCm39)	D328G	probably damaging	Het
Eapp	A	T	12: 54,739,741 (GRCm39)	S25R	probably damaging	Het
Ebag9	T	A	15: 44,491,033 (GRCm39)		probably null	Het
Exog	G	A	9: 119,291,586 (GRCm39)	E288K	possibly damaging	Het
Fads2	A	T	19: 10,047,940 (GRCm39)	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,194,008 (GRCm39)	S220R	possibly damaging	Het
Fcgbp	T	A	7: 27,803,012 (GRCm39)	C1539S	probably damaging	Het
Fcsk	T	C	8: 111,615,563 (GRCm39)	T589A	probably benign	Het
Fv1	C	T	4: 147,954,621 (GRCm39)	R396W	probably damaging	Het
Fv1	T	C	4: 147,954,654 (GRCm39)	F407L	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Hydin	T	C	8: 111,262,011 (GRCm39)	I2704T	probably benign	Het
Ighm	T	A	12: 113,386,097 (GRCm39)	E84D	probably benign	Het
Ikzf5	A	G	7: 130,994,012 (GRCm39)	V205A	probably benign	Het
Kcnt1	G	T	2: 25,797,351 (GRCm39)	V844L	probably benign	Het
Kif2a	A	C	13: 107,106,304 (GRCm39)	S528R	probably damaging	Het
Klhl29	G	A	12: 5,190,641 (GRCm39)	T118M	probably damaging	Het
Krt4	C	A	15: 101,827,564 (GRCm39)	G492C	unknown	Het
Lama1	T	A	17: 68,116,940 (GRCm39)	I2441N		Het
Lin7a	T	C	10: 107,247,905 (GRCm39)	V192A	possibly damaging	Het
Marchf8	T	A	6: 116,378,990 (GRCm39)	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,838,074 (GRCm39)	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,155,715 (GRCm39)	S73P	probably damaging	Het
Muc6	G	T	7: 141,216,310 (GRCm39)	P2788T	unknown	Het
Ncf1	T	C	5: 134,250,899 (GRCm39)	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177 (GRCm39)	M122T	probably benign	Het
Nfil3	C	T	13: 53,121,591 (GRCm39)	A438T	probably damaging	Het
Noc2l	T	G	4: 156,328,022 (GRCm39)	I504S	probably damaging	Het
Nphs1	T	C	7: 30,166,955 (GRCm39)	C735R	probably damaging	Het
Or10g6	A	T	9: 39,934,171 (GRCm39)	S161C	probably benign	Het
Or2y10	T	C	11: 49,454,961 (GRCm39)	L71P	probably damaging	Het
Or5d38	C	A	2: 87,955,000 (GRCm39)	V110L	probably damaging	Het
Or6b9	A	C	7: 106,555,846 (GRCm39)	L99R	possibly damaging	Het
Pcdhac1	A	G	18: 37,225,506 (GRCm39)	H773R	probably benign	Het
Pcnt	A	G	10: 76,237,314 (GRCm39)	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,158,034 (GRCm39)	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,219,040 (GRCm39)	M197K	probably damaging	Het
Plekho1	C	T	3: 95,903,091 (GRCm39)	G7S	probably benign	Het
Pramel17	A	G	4: 101,692,965 (GRCm39)	V345A	possibly damaging	Het
Prl7d1	A	C	13: 27,898,339 (GRCm39)	S57A	probably benign	Het
Prpf3	A	G	3: 95,741,512 (GRCm39)	V548A	possibly damaging	Het
Prss56	C	T	1: 87,111,219 (GRCm39)	P2L	possibly damaging	Het
Ric1	A	G	19: 29,580,030 (GRCm39)	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 128,977,812 (GRCm39)	D676E	probably damaging	Het
Rph3a	T	A	5: 121,100,521 (GRCm39)	T126S	probably benign	Het
Sh3gl3	T	C	7: 81,917,562 (GRCm39)		probably null	Het
Slc35f2	T	C	9: 53,708,385 (GRCm39)	V126A	probably benign	Het
Snrnp200	A	T	2: 127,068,240 (GRCm39)	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,422,711 (GRCm39)	N435S	probably damaging	Het
Tab2	A	G	10: 7,795,214 (GRCm39)	S349P	possibly damaging	Het
Tie1	A	T	4: 118,330,183 (GRCm39)	W1040R	probably null	Het
Tnni3k	A	T	3: 154,562,244 (GRCm39)	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,859,474 (GRCm39)	V40A	possibly damaging	Het
Ttn	G	A	2: 76,576,379 (GRCm39)	S24838L	probably damaging	Het
Ttn	A	G	2: 76,725,660 (GRCm39)	W6158R	unknown	Het
Vegfa	T	C	17: 46,335,401 (GRCm39)	S298G	probably damaging	Het
Zer1	T	C	2: 29,997,643 (GRCm39)	K421R	probably benign	Het
Zfp959	C	A	17: 56,204,866 (GRCm39)	T301N	probably benign	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
R6294:Slc14a1	UTSW	18	78,153,273 (GRCm39)	critical splice acceptor site	probably null
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
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'- GGGAACATCACTTGCTCTGC -3'
(R):5'- TGATCCCACAACTCATGGC -3'

Sequencing Primer
(F):5'- CTGCTCACACAGTTAGCTAGTGG -3'
(R):5'- AGAACAGCCTGCTCATTGTC -3'

Posted On

2022-11-14