Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Slc14a1'

504521

Institutional Source

Beutler Lab

Gene Symbol

Slc14a1

Ensembl Gene

ENSMUSG00000059336

Gene Name

solute carrier family 14 (urea transporter), member 1

Synonyms

UT-B, 2610507K20Rik, 3021401A05Rik

MMRRC Submission

044357-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78100091-78142119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78116399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 93 (M93R)

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: M37R

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

SMART Domains

Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: M37R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160292
AA Change: M93R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: M93R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160639
AA Change: M37R

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

SMART Domains

Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: M37R

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

Meta Mutation Damage Score

0.8542

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	T	7: 46,030,256	T9K	probably benign	Het
Ankrd28	T	C	14: 31,707,220	H925R	probably damaging	Het
Antxrl	A	T	14: 34,056,599	T128S	probably damaging	Het
Atp8b5	T	C	4: 43,304,674	Y62H	probably damaging	Het
AU019823	A	G	9: 50,607,671	S214P	possibly damaging	Het
Bmpr2	G	T	1: 59,867,436	V563L	probably benign	Het
Btn1a1	A	T	13: 23,464,351	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,507,180	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,351,213	I150N	probably damaging	Het
Cdc26	C	T	4: 62,402,794	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,656,580	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,592,183		probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dgat1	T	C	15: 76,503,293	N317S	possibly damaging	Het
Disp1	G	A	1: 183,099,025	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,703,356		probably null	Het
Dnase1l2	C	A	17: 24,442,518		probably benign	Het
Dsg2	T	C	18: 20,594,293		probably null	Het
Duox2	A	T	2: 122,287,193	F887I	probably benign	Het
Efcab6	T	C	15: 83,967,624	D351G	possibly damaging	Het
Ep400	A	G	5: 110,670,942	V2621A	probably damaging	Het
Epg5	G	T	18: 77,948,462	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,923,584	R953G	probably damaging	Het
Etfdh	G	T	3: 79,612,029	Y272*	probably null	Het
Fam117b	A	G	1: 59,969,048	E347G	probably damaging	Het
Fam214a	A	G	9: 75,006,363	M100V	possibly damaging	Het
Gfra3	A	T	18: 34,695,793	C183S	probably damaging	Het
Gm4981	A	G	10: 58,235,522	M290T	probably benign	Het
Gmip	A	G	8: 69,816,123	D466G	probably damaging	Het
Golga5	G	A	12: 102,484,481	M464I	probably benign	Het
Gpd1	A	T	15: 99,723,265	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,093,877	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,346,038	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,765,353	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,336,097	M31V	possibly damaging	Het
Itih1	T	C	14: 30,931,260	D737G	probably benign	Het
Kcnc4	G	C	3: 107,448,377	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,819,497	T195S	probably damaging	Het
Limch1	A	T	5: 67,016,502	D642V	probably damaging	Het
Lrp2	T	G	2: 69,482,366	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,256,553	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Lypd8	A	T	11: 58,386,803	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,260,063	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,271,304	G483D	probably benign	Het
Mrpl35	C	A	6: 71,823,677		probably benign	Het
Mycbp2	T	A	14: 103,260,229	H936L	probably benign	Het
Myh3	A	T	11: 67,087,486	Y433F	probably benign	Het
Napb	C	T	2: 148,698,178		probably null	Het
Nbeal1	C	A	1: 60,295,924	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,671,652	Q224*	probably null	Het
Nkd2	A	G	13: 73,821,460	S284P	probably benign	Het
Olfr1100	T	C	2: 86,978,691	Y35C	probably damaging	Het
Olfr1448	A	T	19: 12,919,937	V124E	probably damaging	Het
Olfr420	G	A	1: 174,152,146	S210N	probably benign	Het
Olfr714	T	C	7: 107,074,136	Y103H	probably damaging	Het
Pcdhb8	A	G	18: 37,356,984	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,402,062	I370V	probably benign	Het
Pcsk5	T	G	19: 17,581,267	E592A	possibly damaging	Het
Pigc	T	C	1: 161,970,467	V6A	probably benign	Het
Pla2g6	T	G	15: 79,305,724	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,763,442		probably null	Het
Psmb11	T	C	14: 54,626,189	V288A	probably benign	Het
Rapgef5	A	G	12: 117,721,663		probably null	Het
Rcn3	T	C	7: 45,083,296	N316S	probably damaging	Het
Rgs6	A	G	12: 83,065,964	K183E	probably damaging	Het
Rhoc	A	G	3: 104,792,981		probably null	Het
Serinc5	T	C	13: 92,708,108	C453R	probably damaging	Het
Slc25a3	A	T	10: 91,122,228	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,124,951	Y459C	probably benign	Het
Slc44a5	A	T	3: 154,239,163	Y139F	probably benign	Het
Spag17	A	T	3: 100,022,602	Q539L	probably benign	Het
Stap2	C	T	17: 55,999,976	V234M	probably damaging	Het
Stard9	A	G	2: 120,713,750	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,778,666	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,182,903	V501I	probably damaging	Het
Thap2	T	C	10: 115,372,846	H123R	probably damaging	Het
Tlx3	C	A	11: 33,202,432	W221L	probably benign	Het
Tmem262	T	A	19: 6,080,537		probably null	Het
Tpmt	C	A	13: 47,027,259	R201S	probably benign	Het
Trpm6	T	C	19: 18,854,291	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,818,483	E64G	possibly damaging	Het
Ttn	A	T	2: 76,810,446	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,640	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,076,463	N224K	probably benign	Het
Vmn2r59	C	T	7: 42,042,411		probably null	Het
Wdfy3	A	G	5: 101,898,429	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,842,006	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,956,355	D324G	probably benign	Het
Zfp217	T	C	2: 170,119,577	T277A	probably benign	Het
Zfp451	A	G	1: 33,803,138		probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp871	T	C	17: 32,775,884	S106G	possibly damaging	Het

Other mutations in Slc14a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Slc14a1	APN	18	78104073	missense	probably damaging	1.00
Glen_eyrie	UTSW	18	78110058	critical splice acceptor site	probably null
R1726:Slc14a1	UTSW	18	78116466	missense	probably benign	0.21
R1889:Slc14a1	UTSW	18	78109697	missense	possibly damaging	0.95
R1895:Slc14a1	UTSW	18	78109697	missense	possibly damaging	0.95
R3946:Slc14a1	UTSW	18	78111392	missense	probably benign	0.00
R4066:Slc14a1	UTSW	18	78111377	missense	probably damaging	0.99
R5511:Slc14a1	UTSW	18	78102471	missense	probably benign	0.01
R5763:Slc14a1	UTSW	18	78116414	missense	probably benign	0.33
R6294:Slc14a1	UTSW	18	78110058	critical splice acceptor site	probably null
R7157:Slc14a1	UTSW	18	78102411	missense	probably benign	0.00
R7486:Slc14a1	UTSW	18	78111524	missense	probably benign	0.00
R7657:Slc14a1	UTSW	18	78113664	critical splice donor site	probably null
R8010:Slc14a1	UTSW	18	78116489	missense	probably benign	0.09
R8028:Slc14a1	UTSW	18	78116512	missense	probably benign	0.00
R8322:Slc14a1	UTSW	18	78102441	missense	possibly damaging	0.73
R8347:Slc14a1	UTSW	18	78111431	missense	probably benign
R8996:Slc14a1	UTSW	18	78113696	missense	possibly damaging	0.47
R9058:Slc14a1	UTSW	18	78102570	critical splice acceptor site	probably null
R9183:Slc14a1	UTSW	18	78111383	missense	probably benign	0.04
R9490:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9602:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9603:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9604:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9605:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9607:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9609:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9658:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9660:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9661:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9663:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9728:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9730:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9731:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9733:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
R9788:Slc14a1	UTSW	18	78109592	missense	probably damaging	1.00
Z1177:Slc14a1	UTSW	18	78104060	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCTCATAGGAGTAGGGCCCTG -3'
(R):5'- CTAAGCCAGCCAACTGTAGAG -3'

Sequencing Primer
(F):5'- CTGCACGCTACTTCAGTGAAAAAGG -3'
(R):5'- CAGCCAACTGTAGAGTTCTTTCTGG -3'

Posted On

2018-02-28