Mutagenetix > Incidental Mutation

Incidental Mutation 'R1726:Slc14a1'

198186

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

039758-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78143306-78185334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78159681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 15 (N15Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125367 (fasta)

Gene Model

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

AlphaFold

Q8VHL0

Predicted Effect

probably benign
Transcript: ENSMUST00000091813
AA Change: N15Y

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: N15Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160292
AA Change: N71Y

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: N71Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160639
AA Change: N15Y

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: N15Y

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

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

Validation Efficiency

97% (63/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	C	12: 118,838,536 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,871,267 (GRCm39)	S711T	possibly damaging	Het
Acoxl	G	A	2: 127,722,366 (GRCm39)	G216R	probably damaging	Het
Arhgef18	A	T	8: 3,504,228 (GRCm39)	N949I	possibly damaging	Het
Bltp3a	C	A	17: 28,105,225 (GRCm39)		probably null	Het
Brip1	A	T	11: 85,955,740 (GRCm39)	S924R	probably benign	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc141	A	G	2: 76,938,700 (GRCm39)		probably benign	Het
Ccdc80	A	T	16: 44,916,368 (GRCm39)	T375S	probably benign	Het
Ccl11	A	G	11: 81,952,546 (GRCm39)	K40E	possibly damaging	Het
Chrnb2	A	T	3: 89,668,509 (GRCm39)	C269S	probably damaging	Het
Dgat2	A	G	7: 98,831,623 (GRCm39)	S33P	possibly damaging	Het
Dip2c	A	G	13: 9,625,464 (GRCm39)	D608G	probably damaging	Het
Dnah2	A	T	11: 69,388,715 (GRCm39)	D889E	probably damaging	Het
Dvl2	A	T	11: 69,900,287 (GRCm39)	T694S	probably benign	Het
Elapor1	A	G	3: 108,375,184 (GRCm39)	I561T	possibly damaging	Het
Fbf1	A	G	11: 116,036,280 (GRCm39)	V1100A	probably benign	Het
Galt	G	A	4: 41,756,001 (GRCm39)	W22*	probably null	Het
Garem1	C	A	18: 21,281,319 (GRCm39)	V346L	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm10762	A	T	2: 128,809,135 (GRCm39)		probably benign	Het
Gm21900	A	G	Y: 10,616,358 (GRCm39)		probably null	Het
Gm2663	T	C	6: 40,974,960 (GRCm39)	Y37C	probably damaging	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Gm5134	C	A	10: 75,828,361 (GRCm39)	P314T	possibly damaging	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
H2-T24	T	A	17: 36,326,513 (GRCm39)	M129L	probably benign	Het
Ikzf2	C	A	1: 69,587,847 (GRCm39)	R214L	probably damaging	Het
Insyn2a	T	C	7: 134,500,867 (GRCm39)		probably benign	Het
Itpr3	T	A	17: 27,330,664 (GRCm39)	L1691Q	probably damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrp10	T	C	14: 54,707,113 (GRCm39)	L650P	probably damaging	Het
Mcm9	G	A	10: 53,413,977 (GRCm39)	P368S	possibly damaging	Het
Mob3b	A	G	4: 34,954,028 (GRCm39)	M214T	probably benign	Het
Mrpl1	T	C	5: 96,371,686 (GRCm39)	V71A	probably benign	Het
Mrpl57	A	G	14: 58,064,092 (GRCm39)	E40G	probably damaging	Het
Mtmr9	A	G	14: 63,774,547 (GRCm39)	V162A	possibly damaging	Het
Nalcn	A	T	14: 123,545,816 (GRCm39)	V1065E	probably damaging	Het
Nemp2	A	G	1: 52,676,554 (GRCm39)	D42G	probably damaging	Het
Npepps	A	G	11: 97,115,495 (GRCm39)	L623P	probably damaging	Het
Olig3	A	G	10: 19,232,482 (GRCm39)	S36G	probably benign	Het
Or10j5	A	G	1: 172,784,658 (GRCm39)	T99A	probably benign	Het
Or11g26	T	A	14: 50,753,636 (GRCm39)		probably null	Het
Or5e1	T	C	7: 108,354,215 (GRCm39)	S51P	probably benign	Het
Pcdhb14	T	A	18: 37,582,647 (GRCm39)	Y584*	probably null	Het
Pcyox1l	T	C	18: 61,830,849 (GRCm39)	Y341C	probably benign	Het
Pdxdc1	A	C	16: 13,656,164 (GRCm39)		probably null	Het
Pias4	A	C	10: 80,991,689 (GRCm39)	V313G	probably damaging	Het
Pkd1	C	T	17: 24,783,150 (GRCm39)	T81M	probably damaging	Het
Ptprm	T	C	17: 67,349,322 (GRCm39)	I40M	probably damaging	Het
Reep6	T	C	10: 80,170,954 (GRCm39)	S277P	probably benign	Het
Shank3	A	G	15: 89,442,189 (GRCm39)	E1694G	probably damaging	Het
Shq1	T	C	6: 100,613,996 (GRCm39)	Y274C	probably benign	Het
Slc12a6	T	A	2: 112,177,771 (GRCm39)	I630N	probably damaging	Het
Slc17a4	A	T	13: 24,089,574 (GRCm39)	Y114*	probably null	Het
Slc26a1	C	T	5: 108,821,541 (GRCm39)	G116D	probably damaging	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Tlr11	A	T	14: 50,598,998 (GRCm39)	H328L	probably benign	Het
Ube2c	G	T	2: 164,613,237 (GRCm39)	A52S	probably damaging	Het
Unc5c	A	G	3: 141,523,864 (GRCm39)	S806G	probably damaging	Het
Zfp874b	A	T	13: 67,622,839 (GRCm39)	I153K	probably damaging	Het
Zkscan2	T	A	7: 123,089,046 (GRCm39)	E408D	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
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
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'- AGTTTGTTAGGTCAGTCCACAGCG -3'
(R):5'- TGTGGCAACGACAACAGCCTAAG -3'

Sequencing Primer
(F):5'- CCTTTCATCTCATAGGAGTAGGGC -3'
(R):5'- TAAGCCAGCCAACTGTAGAG -3'

Posted On

2014-05-23