Mutagenetix > Incidental Mutation

Incidental Mutation 'R4656:Slc22a29'

352469

Institutional Source

Beutler Lab

Gene Symbol

Slc22a29

Ensembl Gene

ENSMUSG00000075044

Gene Name

solute carrier family 22. member 29

Synonyms

D630002G06Rik

MMRRC Submission

041916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8160165-8218900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8218300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 125 (S125I)

Ref Sequence

ENSEMBL: ENSMUSP00000152815 (fasta)

Gene Model

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

AlphaFold

Q8BWG6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113298
AA Change: S125I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: S125I

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

noncoding transcript
Transcript: ENSMUST00000140910

SMART Domains

Protein: ENSMUSP00000117625
Gene: ENSMUSG00000075044

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	98	454	4.6e-20	PFAM
Pfam:MFS_1	137	462	3.6e-15	PFAM
low complexity region	467	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149182

SMART Domains

Protein: ENSMUSP00000122262
Gene: ENSMUSG00000075044

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	62	418	2.2e-20	PFAM
Pfam:MFS_1	101	427	1.9e-15	PFAM
low complexity region	431	445	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222533
AA Change: S125I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	A	10: 77,981,616	R59H	probably benign	Het
2310003L06Rik	G	A	5: 87,964,675		probably benign	Het
4931406B18Rik	T	A	7: 43,501,141	H69L	probably benign	Het
Ace2	T	C	X: 164,153,114	S84P	probably benign	Het
Adgb	A	C	10: 10,405,306	N656K	probably damaging	Het
Ago3	G	T	4: 126,363,752	Y495*	probably null	Het
Ahnak	G	A	19: 9,004,855	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,661,550	R271G	probably benign	Het
Atp4a	T	G	7: 30,719,948		probably benign	Het
C87499	T	C	4: 88,629,965	T68A	probably benign	Het
Casp1	C	T	9: 5,304,324	P333S	probably damaging	Het
Ceacam9	C	T	7: 16,723,649	A34V	probably benign	Het
Ces1b	C	G	8: 93,057,414	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,014,639	T88S	possibly damaging	Het
Col2a1	C	T	15: 97,976,176	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,702,610	F436L	probably damaging	Het
Dcaf7	T	C	11: 106,053,798	V269A	probably damaging	Het
Disp2	T	C	2: 118,790,563	L592P	probably damaging	Het
Eda2r	T	A	X: 97,341,633	Q171L	probably damaging	Het
Egln2	A	G	7: 27,159,193	V408A	probably benign	Het
Gabpb2	A	G	3: 95,188,941	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,525,215	Y936*	probably null	Het
Gm14149	A	T	2: 151,230,764		noncoding transcript	Het
Gnl2	C	T	4: 125,040,997	Q149*	probably null	Het
Gpr107	C	T	2: 31,214,249	T522M	probably damaging	Het
Grpr	T	A	X: 163,514,996	S351C	probably damaging	Het
Gsdma	T	C	11: 98,673,081	L287P	probably damaging	Het
Herc1	A	G	9: 66,394,711	T652A	probably damaging	Het
Ifi204	C	A	1: 173,760,361		probably benign	Het
Irx2	T	C	13: 72,631,298	S234P	probably damaging	Het
Itgal	T	A	7: 127,322,553	D808E	probably damaging	Het
Krt13	C	A	11: 100,119,363	R264L	probably damaging	Het
March1	T	A	8: 66,386,419	L38I	probably benign	Het
Megf9	T	C	4: 70,448,767	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,608,337		probably benign	Het
Mroh9	A	T	1: 163,066,024	M194K	probably damaging	Het
Nhlrc3	A	G	3: 53,463,080	S22P	probably damaging	Het
Nipal2	A	T	15: 34,577,568		probably null	Het
Nr1h4	A	G	10: 89,498,253	S78P	probably benign	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr390	A	T	11: 73,787,511	D191V	probably damaging	Het
Olfr607	C	T	7: 103,460,488	R235Q	probably benign	Het
Olfr908	A	T	9: 38,516,556	N175Y	probably damaging	Het
Pdzd2	A	G	15: 12,385,711	V991A	probably benign	Het
Pex1	G	A	5: 3,604,880		probably null	Het
Plch1	G	T	3: 63,704,177	A859E	probably damaging	Het
Ranbp2	A	G	10: 58,453,422	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,811,435	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,835,322	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,345,273	T370K	probably damaging	Het
Shc2	A	T	10: 79,621,169	L538M	probably damaging	Het
Skint1	A	G	4: 112,021,477	K202R	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slco4c1	A	T	1: 96,841,245	D297E	probably benign	Het
Slco6d1	T	C	1: 98,423,203	F136S	probably benign	Het
Smg1	A	T	7: 118,212,951	V39E	probably benign	Het
Spns1	G	T	7: 126,374,302		probably benign	Het
Spsb1	A	G	4: 149,906,410		probably null	Het
Sspo	T	G	6: 48,454,076	I631S	possibly damaging	Het
Syne2	T	C	12: 76,031,373	L4694P	probably damaging	Het
Taf5l	T	C	8: 123,998,105	E325G	probably benign	Het
Tars	A	T	15: 11,394,264	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,485,254	K745E	probably damaging	Het
Tenm3	A	G	8: 48,293,726	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,295,414	M677K	probably damaging	Het
Txlnb	A	T	10: 17,815,276	K191N	probably damaging	Het
Ubr1	A	G	2: 120,926,013	V711A	probably benign	Het
Uqcrb	T	C	13: 66,901,539	T41A	probably benign	Het
Usp6nl	A	G	2: 6,441,162	Y627C	probably damaging	Het
Vezf1	A	G	11: 88,074,667	D245G	probably damaging	Het
Vmn2r66	A	G	7: 85,011,996	W9R	possibly damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Wrn	A	T	8: 33,335,991		probably null	Het
Zfy1	T	G	Y: 729,626	T339P	unknown	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
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
R9673:Slc22a29	UTSW	19	8162740	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGCCATAATGTGCCATCATCC -3'
(R):5'- CACTGCCTCTGATAATGGCAGTAG -3'

Sequencing Primer
(F):5'- CACAAAGACTGAGCTAAATGAA -3'
(R):5'- TGCCTCTGATAATGGCAGTAGGATAC -3'

Posted On

2015-10-08