Mutagenetix > Incidental Mutation

Incidental Mutation 'R5511:Slc14a1'

431260

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

043072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78143306-78185334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78145686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 416 (S416N)

Ref Sequence

ENSEMBL: ENSMUSP00000125114 (fasta)

Gene Model

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

AlphaFold

Q8VHL0

Predicted Effect

probably benign
Transcript: ENSMUST00000091813
AA Change: S360N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: S360N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160292
AA Change: S416N

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: S416N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160639
AA Change: S360N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: S360N

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

Meta Mutation Damage Score

0.1114

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.1%
20x: 90.3%

Validation Efficiency

98% (81/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,654,685 (GRCm39)	L173P	probably damaging	Het
Agl	A	T	3: 116,582,209 (GRCm39)	V271D	possibly damaging	Het
Alox15	G	T	11: 70,240,808 (GRCm39)	P191T	probably benign	Het
Apaf1	T	C	10: 90,890,254 (GRCm39)	Y583C	probably damaging	Het
Aqp9	T	A	9: 71,070,375 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,365,848 (GRCm39)	F1113L	possibly damaging	Het
Cap1	A	C	4: 122,756,583 (GRCm39)		probably benign	Het
Car11	T	C	7: 45,349,885 (GRCm39)	W35R	probably damaging	Het
Casc3	T	A	11: 98,701,740 (GRCm39)	Y91*	probably null	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cd22	A	T	7: 30,569,496 (GRCm39)	I540N	probably damaging	Het
Chad	A	T	11: 94,456,072 (GRCm39)	E50V	probably damaging	Het
Chd3	C	G	11: 69,252,301 (GRCm39)	G34R	probably damaging	Het
Col9a1	T	C	1: 24,218,619 (GRCm39)	V77A	unknown	Het
Copg1	G	A	6: 87,889,276 (GRCm39)	V873M	probably damaging	Het
Dnhd1	T	A	7: 105,363,363 (GRCm39)	V3975E	probably damaging	Het
Dock6	A	T	9: 21,728,703 (GRCm39)	V1290D	possibly damaging	Het
Elp2	A	T	18: 24,745,507 (GRCm39)	K150*	probably null	Het
Eri3	A	C	4: 117,472,386 (GRCm39)	Y260S	possibly damaging	Het
Esrrg	C	T	1: 187,943,304 (GRCm39)	L426F	probably damaging	Het
Farp1	G	T	14: 121,474,584 (GRCm39)	V266L	probably damaging	Het
Flnc	A	G	6: 29,458,897 (GRCm39)	E2459G	probably damaging	Het
Glis1	G	A	4: 107,293,074 (GRCm39)	D66N	probably damaging	Het
Gm14129	T	A	2: 148,773,446 (GRCm39)		noncoding transcript	Het
Gm28051	A	G	12: 102,686,415 (GRCm39)	*82R	probably null	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gne	C	T	4: 44,041,843 (GRCm39)	V485M	probably damaging	Het
Lcn10	T	A	2: 25,572,841 (GRCm39)	V15E	probably benign	Het
Mapk11	T	A	15: 89,029,380 (GRCm39)		probably null	Het
Me3	T	G	7: 89,455,876 (GRCm39)	Y243D	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myo1h	T	A	5: 114,483,958 (GRCm39)	L519*	probably null	Het
Myo9a	T	C	9: 59,687,495 (GRCm39)	V200A	probably damaging	Het
Mzf1	T	A	7: 12,785,526 (GRCm39)	Q161H	possibly damaging	Het
Nim1k	T	G	13: 120,189,130 (GRCm39)	H93P	probably damaging	Het
Nkx6-1	C	A	5: 101,811,532 (GRCm39)	R190L	probably damaging	Het
Noc3l	A	G	19: 38,782,625 (GRCm39)	V671A	probably benign	Het
Nsd1	T	C	13: 55,460,543 (GRCm39)	S2257P	probably benign	Het
Nup210	T	A	6: 91,003,945 (GRCm39)	I648F	probably damaging	Het
Oplah	T	C	15: 76,189,944 (GRCm39)	E223G	possibly damaging	Het
Or5b120	T	C	19: 13,480,556 (GRCm39)	M283T	probably benign	Het
Plekhs1	A	C	19: 56,474,224 (GRCm39)	T457P	probably damaging	Het
Plppr4	G	A	3: 117,119,551 (GRCm39)	T286I	probably benign	Het
Prpf4b	T	C	13: 35,068,037 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,878 (GRCm39)	D318E	possibly damaging	Het
Psap	A	G	10: 60,134,959 (GRCm39)	E289G	possibly damaging	Het
Rad17	A	G	13: 100,764,157 (GRCm39)	V438A	possibly damaging	Het
Raf1	T	C	6: 115,597,217 (GRCm39)	S28G	probably benign	Het
Ranbp2	A	G	10: 58,329,561 (GRCm39)	D2978G	probably benign	Het
Rnf170	T	A	8: 26,631,027 (GRCm39)	D213E	probably damaging	Het
Rsph3a	T	A	17: 8,164,905 (GRCm39)	H88Q	possibly damaging	Het
Scd1	A	G	19: 44,395,198 (GRCm39)	I9T	probably benign	Het
Sgk3	T	C	1: 9,968,911 (GRCm39)		probably benign	Het
Smok4a	T	C	17: 13,746,474 (GRCm39)		noncoding transcript	Het
Sostdc1	A	T	12: 36,367,165 (GRCm39)	I114F	probably damaging	Het
Spen	G	A	4: 141,202,375 (GRCm39)	T2084I	possibly damaging	Het
Spen	G	T	4: 141,244,149 (GRCm39)	D295E	unknown	Het
Sptbn5	T	C	2: 119,890,202 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,101,184 (GRCm39)		probably benign	Het
Tcea3	A	T	4: 135,998,683 (GRCm39)	Y319F	probably damaging	Het
Timd4	T	A	11: 46,710,807 (GRCm39)		probably null	Het
Tmem88b	G	A	4: 155,870,002 (GRCm39)	P20S	probably damaging	Het
Tsen2	T	A	6: 115,538,365 (GRCm39)	C281S	probably damaging	Het
Vmn2r28	T	C	7: 5,487,011 (GRCm39)	T551A	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,832 (GRCm39)	H732R	probably benign	Het
Wdr90	A	G	17: 26,063,995 (GRCm39)		probably benign	Het
Zdbf2	T	C	1: 63,344,836 (GRCm39)	S1072P	probably benign	Het
Zfp148	A	G	16: 33,255,004 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,790,851 (GRCm39)	E397D	probably damaging	Het
Zfp729b	A	G	13: 67,740,499 (GRCm39)	F599L	probably 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
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
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'- AGTATGGAAGTGGCTCCCAGAG -3'
(R):5'- TCCCAACCAATCATCTTCTGGG -3'

Sequencing Primer
(F):5'- CTCCCAGAGAAGAAAAGCAATTGTG -3'
(R):5'- TCTGTTTGGCCACACTAC -3'

Posted On

2016-10-05