Mutagenetix > Incidental Mutation

Incidental Mutation 'R7535:Slc22a29'

583558

Institutional Source

Beutler Lab

Gene Symbol

Slc22a29

Ensembl Gene

ENSMUSG00000075044

Gene Name

solute carrier family 22. member 29

Synonyms

D630002G06Rik

MMRRC Submission

045607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8160165-8218900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8169978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 340 (F340S)

Ref Sequence

ENSEMBL: ENSMUSP00000108923 (fasta)

Gene Model

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

AlphaFold

Q8BWG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000113298
AA Change: F340S

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

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: F340S

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 damaging
Transcript: ENSMUST00000222533
AA Change: F340S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,001,629 (GRCm38)	L449Q	probably benign	Het
Agtpbp1	T	C	13: 59,504,253 (GRCm38)	T415A	probably benign	Het
Akt3	A	T	1: 177,097,034 (GRCm38)	V165D	probably damaging	Het
Cbr2	T	A	11: 120,729,802 (GRCm38)	I219F	probably damaging	Het
Cdh20	T	A	1: 104,975,043 (GRCm38)	D486E	probably damaging	Het
Cenpe	A	G	3: 135,243,762 (GRCm38)	S103G	possibly damaging	Het
Chd4	T	A	6: 125,128,873 (GRCm38)	S1818T	probably benign	Het
Chst5	T	C	8: 111,890,163 (GRCm38)	D275G	probably damaging	Het
Clca1	A	G	3: 145,018,567 (GRCm38)	I244T	probably damaging	Het
Cyp2c54	A	G	19: 40,070,272 (GRCm38)	Y239H	probably benign	Het
Czib	T	G	4: 107,894,900 (GRCm38)	S159A	probably benign	Het
Ddx25	A	G	9: 35,543,655 (GRCm38)	F446L	possibly damaging	Het
Dgkb	T	C	12: 38,136,647 (GRCm38)	L265P	probably damaging	Het
Dis3	A	G	14: 99,089,979 (GRCm38)	S363P	probably benign	Het
Disp3	T	C	4: 148,242,866 (GRCm38)	E1187G	probably damaging	Het
Dop1b	G	A	16: 93,806,361 (GRCm38)	G2061R	probably damaging	Het
Dsp	T	C	13: 38,192,789 (GRCm38)	S1517P	probably benign	Het
Epg5	T	A	18: 78,032,926 (GRCm38)	V2513E	probably benign	Het
Fryl	T	A	5: 73,098,196 (GRCm38)	T831S	probably benign	Het
Gm6309	A	T	5: 146,168,290 (GRCm38)	V271D	probably damaging	Het
H2-M2	G	T	17: 37,482,637 (GRCm38)	S159R	probably benign	Het
Helq	A	G	5: 100,790,133 (GRCm38)		probably null	Het
Herc1	G	C	9: 66,474,853 (GRCm38)	D3621H	probably damaging	Het
Hsd11b2	A	T	8: 105,519,123 (GRCm38)	I87F	probably damaging	Het
Ice2	A	G	9: 69,432,078 (GRCm38)	N959S	probably damaging	Het
Ifi47	T	A	11: 49,096,625 (GRCm38)	D406E	probably damaging	Het
Ifit3	T	G	19: 34,587,880 (GRCm38)	S275R	probably damaging	Het
Insl5	C	A	4: 103,018,198 (GRCm38)	K118N	probably damaging	Het
Irf7	A	T	7: 141,264,637 (GRCm38)	F158I	probably benign	Het
Kat2b	T	C	17: 53,624,403 (GRCm38)	L143P	probably damaging	Het
Klk1b1	A	T	7: 43,970,322 (GRCm38)	N102Y	probably damaging	Het
Krt13	C	T	11: 100,117,998 (GRCm38)	G410S	unknown	Het
Larp6	A	T	9: 60,724,154 (GRCm38)	T70S	probably benign	Het
Lrrc37a	T	C	11: 103,501,857 (GRCm38)	E914G	possibly damaging	Het
Mindy4	T	C	6: 55,297,753 (GRCm38)		probably null	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Myom2	A	G	8: 15,117,679 (GRCm38)	Y1088C	probably damaging	Het
Mysm1	T	C	4: 94,952,215 (GRCm38)	N655D	probably benign	Het
Nbas	T	A	12: 13,279,389 (GRCm38)	S112T	probably damaging	Het
Neb	A	G	2: 52,165,103 (GRCm38)		probably null	Het
Noxred1	G	A	12: 87,233,432 (GRCm38)	A42V	probably benign	Het
Olfm5	G	A	7: 104,154,237 (GRCm38)	P340S	possibly damaging	Het
Or11h4	G	A	14: 50,736,665 (GRCm38)	P166S	probably benign	Het
Or2l5	T	C	16: 19,514,794 (GRCm38)	T281A	probably damaging	Het
Or5al5	A	G	2: 86,131,264 (GRCm38)	V133A	probably benign	Het
Or5m8	T	A	2: 85,991,901 (GRCm38)	V28E	probably benign	Het
Or9i1b	A	G	19: 13,919,085 (GRCm38)	K22E	probably benign	Het
Pccb	A	T	9: 100,994,562 (GRCm38)		probably null	Het
Pnn	T	A	12: 59,072,137 (GRCm38)	V502E	probably benign	Het
Pole2	A	T	12: 69,222,429 (GRCm38)	I98K	probably benign	Het
Ptpn18	G	A	1: 34,473,364 (GRCm38)	D417N	possibly damaging	Het
Rasgrp4	A	G	7: 29,139,059 (GRCm38)	K111E	probably benign	Het
Rbbp6	G	A	7: 122,990,143 (GRCm38)	M351I	probably benign	Het
Rgs19	T	G	2: 181,691,308 (GRCm38)	H53P	probably damaging	Het
Rin1	A	T	19: 5,052,536 (GRCm38)	T369S	probably benign	Het
Rnaset2b	G	A	17: 6,991,739 (GRCm38)	E135K	possibly damaging	Het
Rprd2	G	A	3: 95,776,587 (GRCm38)	P379S	probably damaging	Het
Sbno1	A	G	5: 124,413,279 (GRCm38)	L47P	possibly damaging	Het
Slamf6	T	A	1: 171,919,758 (GRCm38)	L29Q	unknown	Het
Slc16a14	T	C	1: 84,913,122 (GRCm38)	Y154C	probably damaging	Het
Slc6a4	T	G	11: 77,015,150 (GRCm38)	I259S	possibly damaging	Het
Smarca4	G	A	9: 21,647,625 (GRCm38)	V651I	possibly damaging	Het
Susd5	C	T	9: 114,064,040 (GRCm38)	A62V	possibly damaging	Het
Syt1	T	A	10: 108,627,422 (GRCm38)		probably null	Het
Taf10	T	C	7: 105,740,910 (GRCm38)	I218T	probably benign	Het
Tas1r1	C	A	4: 152,028,362 (GRCm38)	V745F	probably benign	Het
Tas2r125	C	A	6: 132,910,324 (GRCm38)	T225K	probably damaging	Het
Tcp11l2	G	T	10: 84,594,659 (GRCm38)	R216L	possibly damaging	Het
Tnks1bp1	C	T	2: 85,063,280 (GRCm38)	Q1184*	probably null	Het
Treml2	T	A	17: 48,302,819 (GRCm38)	V93D	probably damaging	Het
Trim11	G	A	11: 58,982,065 (GRCm38)	E192K	probably damaging	Het
Trim43a	A	G	9: 88,588,148 (GRCm38)	K336E	probably damaging	Het
Tspan33	T	A	6: 29,717,589 (GRCm38)	I268N	possibly damaging	Het
Tstd2	C	T	4: 46,116,960 (GRCm38)	C458Y	probably damaging	Het
Ttc6	A	G	12: 57,576,519 (GRCm38)	S235G	probably benign	Het
Usp29	A	C	7: 6,961,220 (GRCm38)	T21P	possibly damaging	Het
Usp36	A	T	11: 118,262,046 (GRCm38)	S1084T	possibly damaging	Het
Vps39	T	A	2: 120,324,695 (GRCm38)	N550I	probably damaging	Het
Wdr47	A	G	3: 108,629,711 (GRCm38)	I572V	probably benign	Het
Zfp112	A	T	7: 24,126,710 (GRCm38)	Y705F	probably damaging	Het
Zfp282	A	G	6: 47,904,944 (GRCm38)	T522A	probably benign	Het
Zfp292	T	C	4: 34,811,487 (GRCm38)	D524G	probably benign	Het
Zfp90	A	T	8: 106,424,268 (GRCm38)	K204N	possibly damaging	Het
Zmym2	T	C	14: 56,957,079 (GRCm38)	S1265P	probably damaging	Het

Other mutations in Slc22a29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc22a29	APN	19	8,217,813 (GRCm38)	missense	probably benign	0.44
IGL00562:Slc22a29	APN	19	8,161,629 (GRCm38)	missense	probably benign	0.03
IGL00563:Slc22a29	APN	19	8,161,629 (GRCm38)	missense	probably benign	0.03
IGL00952:Slc22a29	APN	19	8,217,857 (GRCm38)	missense	probably damaging	1.00
IGL01526:Slc22a29	APN	19	8,207,178 (GRCm38)	splice site	probably benign
IGL01792:Slc22a29	APN	19	8,218,529 (GRCm38)	missense	probably damaging	1.00
IGL02191:Slc22a29	APN	19	8,218,681 (GRCm38)	unclassified	probably benign
IGL02391:Slc22a29	APN	19	8,169,353 (GRCm38)	missense	probably benign	0.13
IGL02408:Slc22a29	APN	19	8,207,285 (GRCm38)	missense	probably benign	0.00
IGL02957:Slc22a29	APN	19	8,169,990 (GRCm38)	missense	probably benign	0.01
IGL03059:Slc22a29	APN	19	8,169,990 (GRCm38)	missense	probably benign	0.01
IGL03299:Slc22a29	APN	19	8,162,648 (GRCm38)	critical splice donor site	probably null
IGL03368:Slc22a29	APN	19	8,207,262 (GRCm38)	critical splice donor site	probably null
R0017:Slc22a29	UTSW	19	8,218,266 (GRCm38)	splice site	probably benign
R0105:Slc22a29	UTSW	19	8,160,627 (GRCm38)	unclassified	probably benign
R0157:Slc22a29	UTSW	19	8,162,742 (GRCm38)	missense	possibly damaging	0.61
R0265:Slc22a29	UTSW	19	8,169,970 (GRCm38)	missense	probably benign	0.18
R1758:Slc22a29	UTSW	19	8,217,762 (GRCm38)	critical splice donor site	probably null
R1918:Slc22a29	UTSW	19	8,217,759 (GRCm38)	splice site	probably null
R1927:Slc22a29	UTSW	19	8,207,066 (GRCm38)	missense	probably benign	0.01
R1959:Slc22a29	UTSW	19	8,169,193 (GRCm38)	missense	probably benign	0.05
R1960:Slc22a29	UTSW	19	8,169,193 (GRCm38)	missense	probably benign	0.05
R1961:Slc22a29	UTSW	19	8,169,193 (GRCm38)	missense	probably benign	0.05
R1966:Slc22a29	UTSW	19	8,218,408 (GRCm38)	missense	probably damaging	1.00
R1968:Slc22a29	UTSW	19	8,218,343 (GRCm38)	missense	probably benign	0.27
R1997:Slc22a29	UTSW	19	8,217,798 (GRCm38)	missense	probably benign	0.00
R3105:Slc22a29	UTSW	19	8,169,973 (GRCm38)	missense	probably benign	0.25
R3725:Slc22a29	UTSW	19	8,218,609 (GRCm38)	missense	possibly damaging	0.78
R4118:Slc22a29	UTSW	19	8,160,529 (GRCm38)	unclassified	probably benign
R4465:Slc22a29	UTSW	19	8,162,724 (GRCm38)	nonsense	probably null
R4584:Slc22a29	UTSW	19	8,169,291 (GRCm38)	missense	probably benign	0.02
R4656:Slc22a29	UTSW	19	8,218,300 (GRCm38)	missense	possibly damaging	0.90
R4679:Slc22a29	UTSW	19	8,161,584 (GRCm38)	missense	possibly damaging	0.65
R4899:Slc22a29	UTSW	19	8,161,569 (GRCm38)	missense	probably benign	0.00
R4913:Slc22a29	UTSW	19	8,218,358 (GRCm38)	missense	probably benign	0.17
R5119:Slc22a29	UTSW	19	8,217,830 (GRCm38)	missense	probably damaging	0.99
R5470:Slc22a29	UTSW	19	8,161,516 (GRCm38)	missense	probably benign	0.01
R5474:Slc22a29	UTSW	19	8,217,857 (GRCm38)	missense	probably damaging	1.00
R6794:Slc22a29	UTSW	19	8,161,523 (GRCm38)	missense	probably benign	0.06
R6798:Slc22a29	UTSW	19	8,160,604 (GRCm38)	missense	probably benign	0.16
R7025:Slc22a29	UTSW	19	8,160,580 (GRCm38)	missense	probably benign
R7240:Slc22a29	UTSW	19	8,161,511 (GRCm38)	missense	probably damaging	0.98
R7846:Slc22a29	UTSW	19	8,193,487 (GRCm38)	missense	probably benign	0.39
R8169:Slc22a29	UTSW	19	8,207,332 (GRCm38)	missense	probably damaging	1.00
R8275:Slc22a29	UTSW	19	8,169,317 (GRCm38)	missense	probably benign	0.00
R8403:Slc22a29	UTSW	19	8,161,640 (GRCm38)	missense	possibly damaging	0.95
R8872:Slc22a29	UTSW	19	8,160,567 (GRCm38)	missense	probably damaging	0.99
R9129:Slc22a29	UTSW	19	8,169,305 (GRCm38)	missense	probably benign	0.03
R9381:Slc22a29	UTSW	19	8,218,477 (GRCm38)	missense	probably benign	0.03
R9550:Slc22a29	UTSW	19	8,217,860 (GRCm38)	nonsense	probably null
R9645:Slc22a29	UTSW	19	8,207,124 (GRCm38)	missense	probably benign	0.04
R9673:Slc22a29	UTSW	19	8,162,740 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTCACTGCACAGTAAGTTCC -3'
(R):5'- CTGTAGAAATCCCCTGAGTGTC -3'

Sequencing Primer
(F):5'- TCACTGCACAGTAAGTTCCATATAC -3'
(R):5'- AGAAATCCCCTGAGTGTCTTTTTG -3'

Posted On

2019-10-17