Mutagenetix > Incidental Mutation

Incidental Mutation 'R9673:Slc22a29'

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Institutional Source

Beutler Lab

Gene Symbol

Slc22a29

Ensembl Gene

ENSMUSG00000075044

Gene Name

solute carrier family 22. member 29

Synonyms

D630002G06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9673 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8160165-8218900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8162740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 434 (I434V)

Ref Sequence

ENSEMBL: ENSMUSP00000108923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]

AlphaFold

Q8BWG6

Predicted Effect

probably benign
Transcript: ENSMUST00000113298
AA Change: I434V

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

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: I434V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	528	1.3e-25	PFAM
Pfam:MFS_1	140	372	7.7e-14	PFAM
Pfam:MFS_1	348	549	6.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000222533
AA Change: I434V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,354,387	K318E	probably benign	Het
9530053A07Rik	A	G	7: 28,156,619	T1944A	probably benign	Het
AI314180	T	C	4: 58,822,060	N1169S	probably benign	Het
Ap5z1	T	C	5: 142,477,358	F766L	probably benign	Het
Atrnl1	A	G	19: 57,611,354	M1V	probably null	Het
Atxn1	T	C	13: 45,557,146	E770G	probably benign	Het
Brwd1	T	G	16: 96,011,896	I1471L	probably benign	Het
Bud23	T	C	5: 135,053,717	E66G	probably benign	Het
Cdh8	T	A	8: 99,030,735	I744L	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cep95	C	A	11: 106,812,496	H467Q	probably benign	Het
Chd1	A	G	17: 15,768,761	Y1592C	probably benign	Het
Chkb	C	G	15: 89,429,425	G59A	probably damaging	Het
Copa	A	G	1: 172,118,081	S915G	probably benign	Het
Creb3	G	T	4: 43,563,191	V97F	probably damaging	Het
Csmd2	T	A	4: 128,414,269	H1273Q		Het
Cxcr1	T	C	1: 74,191,915	N316S	probably benign	Het
Cyct	A	T	2: 76,354,179	I76N	probably damaging	Het
Dmxl2	G	T	9: 54,387,556	R2412S	probably damaging	Het
Dnah11	A	G	12: 118,018,778	M2552T	possibly damaging	Het
Dnph1	G	A	17: 46,498,975	E148K	possibly damaging	Het
Esp16	T	A	17: 39,537,840	Y8*	probably null	Het
Fam186a	T	C	15: 99,943,143	D1740G	possibly damaging	Het
Fam76a	C	A	4: 132,901,246	K300N	probably damaging	Het
Frrs1l	A	C	4: 56,990,191	D27E		Het
G6pc	T	C	11: 101,376,554	S277P	probably damaging	Het
Gabrg3	T	A	7: 57,323,674	I82F	probably damaging	Het
Gm3604	G	T	13: 62,370,155	Q130K	probably benign	Het
Gm8879	T	A	5: 11,129,023	N55K	probably benign	Het
Hhip	T	A	8: 79,992,479	D473V	probably damaging	Het
Ifi209	T	C	1: 173,642,766	S307P	probably damaging	Het
Ino80c	C	T	18: 24,121,799	M1I	probably null	Het
Jag2	G	T	12: 112,911,796	C872*	probably null	Het
Kcnma1	A	C	14: 23,508,055	H474Q	probably benign	Het
Krr1	G	A	10: 111,983,058		probably null	Het
Lats1	T	G	10: 7,712,623	D1001E	probably benign	Het
Lilr4b	T	C	10: 51,481,657	L149P	probably benign	Het
Lrrk2	T	A	15: 91,765,681	S1674T	probably damaging	Het
Magi2	A	G	5: 20,465,584	I309V	possibly damaging	Het
Mtmr4	A	G	11: 87,612,312	D1064G	probably damaging	Het
Mtmr4	T	C	11: 87,614,090	V1137A	probably damaging	Het
Neb	C	T	2: 52,243,841		probably null	Het
Nhsl1	T	A	10: 18,526,917	V1297E	possibly damaging	Het
Nlrp3	T	A	11: 59,549,322	V575D	probably damaging	Het
Nptx2	T	C	5: 144,555,349	I312T	possibly damaging	Het
Osm	A	G	11: 4,239,926	T237A	probably benign	Het
Pcdha12	T	C	18: 37,022,181	V651A	possibly damaging	Het
Pclo	A	G	5: 14,858,744		probably null	Het
Pdlim3	C	T	8: 45,915,158	S183L	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pgm1	T	A	5: 64,116,328	M552K	probably damaging	Het
Pkhd1l1	T	C	15: 44,523,505	L1258S	probably benign	Het
Proser3	T	G	7: 30,549,105	T55P	probably damaging	Het
Ranbp2	C	A	10: 58,465,141	P611Q	probably damaging	Het
Rangap1	T	C	15: 81,706,436	D485G	probably benign	Het
Rp1	G	A	1: 4,267,569	T421I	unknown	Het
Ryr3	G	A	2: 112,656,538	L3862F	possibly damaging	Het
Sbf1	C	T	15: 89,295,472	G1337R	possibly damaging	Het
Setd2	A	G	9: 110,549,070	E651G	probably damaging	Het
Shmt1	A	G	11: 60,801,943	W105R	probably damaging	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Sord	C	T	2: 122,260,231	T221I	probably benign	Het
Tbcd	T	C	11: 121,573,821	Y561H	probably damaging	Het
Tcaf1	G	A	6: 42,686,874	S24F	probably benign	Het
Tenm4	A	T	7: 96,867,989	D1429V	probably damaging	Het
Tesk1	A	G	4: 43,444,574	Y126C	probably damaging	Het
Tmem176a	G	A	6: 48,844,018	V141I	probably benign	Het
Tmem204	A	T	17: 25,080,269	V92D	probably damaging	Het
Ttn	T	A	2: 76,742,261	D26096V	probably damaging	Het
Vmn1r70	T	A	7: 10,634,437	L284Q	probably damaging	Het
Vmn2r77	T	C	7: 86,800,963	V139A	possibly damaging	Het
Wdpcp	A	G	11: 21,721,285	R509G	possibly damaging	Het
Wee1	C	T	7: 110,126,003	T284I	probably damaging	Het
Wfs1	A	G	5: 36,967,769	S593P	probably damaging	Het
Zbtb11	A	G	16: 56,006,973	H934R	probably damaging	Het
Zfp277	A	T	12: 40,320,612	V446E	probably benign	Het
Zfp874a	C	A	13: 67,443,037	R176L	probably benign	Het
Znrf2	A	T	6: 54,863,993	N184I	probably damaging	Het
Zp2	T	A	7: 120,134,015	T568S	probably damaging	Het

Other mutations in Slc22a29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc22a29	APN	19	8217813	missense	probably benign	0.44
IGL00562:Slc22a29	APN	19	8161629	missense	probably benign	0.03
IGL00563:Slc22a29	APN	19	8161629	missense	probably benign	0.03
IGL00952:Slc22a29	APN	19	8217857	missense	probably damaging	1.00
IGL01526:Slc22a29	APN	19	8207178	splice site	probably benign
IGL01792:Slc22a29	APN	19	8218529	missense	probably damaging	1.00
IGL02191:Slc22a29	APN	19	8218681	unclassified	probably benign
IGL02391:Slc22a29	APN	19	8169353	missense	probably benign	0.13
IGL02408:Slc22a29	APN	19	8207285	missense	probably benign	0.00
IGL02957:Slc22a29	APN	19	8169990	missense	probably benign	0.01
IGL03059:Slc22a29	APN	19	8169990	missense	probably benign	0.01
IGL03299:Slc22a29	APN	19	8162648	critical splice donor site	probably null
IGL03368:Slc22a29	APN	19	8207262	critical splice donor site	probably null
R0017:Slc22a29	UTSW	19	8218266	splice site	probably benign
R0105:Slc22a29	UTSW	19	8160627	unclassified	probably benign
R0157:Slc22a29	UTSW	19	8162742	missense	possibly damaging	0.61
R0265:Slc22a29	UTSW	19	8169970	missense	probably benign	0.18
R1758:Slc22a29	UTSW	19	8217762	critical splice donor site	probably null
R1918:Slc22a29	UTSW	19	8217759	splice site	probably null
R1927:Slc22a29	UTSW	19	8207066	missense	probably benign	0.01
R1959:Slc22a29	UTSW	19	8169193	missense	probably benign	0.05
R1960:Slc22a29	UTSW	19	8169193	missense	probably benign	0.05
R1961:Slc22a29	UTSW	19	8169193	missense	probably benign	0.05
R1966:Slc22a29	UTSW	19	8218408	missense	probably damaging	1.00
R1968:Slc22a29	UTSW	19	8218343	missense	probably benign	0.27
R1997:Slc22a29	UTSW	19	8217798	missense	probably benign	0.00
R3105:Slc22a29	UTSW	19	8169973	missense	probably benign	0.25
R3725:Slc22a29	UTSW	19	8218609	missense	possibly damaging	0.78
R4118:Slc22a29	UTSW	19	8160529	unclassified	probably benign
R4465:Slc22a29	UTSW	19	8162724	nonsense	probably null
R4584:Slc22a29	UTSW	19	8169291	missense	probably benign	0.02
R4656:Slc22a29	UTSW	19	8218300	missense	possibly damaging	0.90
R4679:Slc22a29	UTSW	19	8161584	missense	possibly damaging	0.65
R4899:Slc22a29	UTSW	19	8161569	missense	probably benign	0.00
R4913:Slc22a29	UTSW	19	8218358	missense	probably benign	0.17
R5119:Slc22a29	UTSW	19	8217830	missense	probably damaging	0.99
R5470:Slc22a29	UTSW	19	8161516	missense	probably benign	0.01
R5474:Slc22a29	UTSW	19	8217857	missense	probably damaging	1.00
R6794:Slc22a29	UTSW	19	8161523	missense	probably benign	0.06
R6798:Slc22a29	UTSW	19	8160604	missense	probably benign	0.16
R7025:Slc22a29	UTSW	19	8160580	missense	probably benign
R7240:Slc22a29	UTSW	19	8161511	missense	probably damaging	0.98
R7535:Slc22a29	UTSW	19	8169978	missense	probably damaging	1.00
R7846:Slc22a29	UTSW	19	8193487	missense	probably benign	0.39
R8169:Slc22a29	UTSW	19	8207332	missense	probably damaging	1.00
R8275:Slc22a29	UTSW	19	8169317	missense	probably benign	0.00
R8403:Slc22a29	UTSW	19	8161640	missense	possibly damaging	0.95
R8872:Slc22a29	UTSW	19	8160567	missense	probably damaging	0.99
R9129:Slc22a29	UTSW	19	8169305	missense	probably benign	0.03
R9381:Slc22a29	UTSW	19	8218477	missense	probably benign	0.03
R9550:Slc22a29	UTSW	19	8217860	nonsense	probably null
R9645:Slc22a29	UTSW	19	8207124	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AATGGGTTAGACGGGTTTCCAG -3'
(R):5'- TCTCTGAAATGTGAGGGAATGAAC -3'

Sequencing Primer
(F):5'- GAAACTTGTACCTTAGTGTGG -3'
(R):5'- GCTTTGATTCTCCACAAATCATCATG -3'

Posted On

2022-10-06