Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Slc22a29'

693507

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 #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8160165-8218900 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 8169305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 378 (I378L)

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: I378L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: I378L

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: I378L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,260	S1238P	probably damaging	Het
Akap9	T	C	5: 4,069,089	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,421,216	L701P		Het
Aph1b	A	C	9: 66,779,313	I225S	probably benign	Het
Asic4	A	T	1: 75,469,825	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Atp9a	A	G	2: 168,675,285	M376T	probably benign	Het
BC049730	A	G	7: 24,713,745	D163G	probably benign	Het
Bod1l	G	T	5: 41,818,877	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,336,454		probably null	Het
Catsper1	C	A	19: 5,340,374		probably benign	Het
Cd248	T	C	19: 5,070,112	S663P	probably benign	Het
Crispld2	A	T	8: 120,010,749	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,896,315	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,314,711	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,681,764		probably benign	Het
Dsp	T	A	13: 38,193,150	V1637D	probably benign	Het
Elovl1	A	T	4: 118,431,959	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,410,120	K483E	probably benign	Het
Fzd2	T	C	11: 102,605,639	F303S	probably benign	Het
Gm14548	C	A	7: 3,895,501		probably null	Het
Gm9944	A	T	4: 144,453,193	V42D	unknown	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hinfp	C	T	9: 44,297,765	R352H	probably damaging	Het
Hrnr	A	G	3: 93,323,970	H505R	unknown	Het
Hsfy2	C	T	1: 56,636,593	D262N	probably benign	Het
Hspa4	G	A	11: 53,283,636	Q186*	probably null	Het
Ipo8	T	C	6: 148,798,627	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,487,748	R54*	probably null	Het
Lama4	T	A	10: 39,056,891	Y588N	probably benign	Het
Lekr1	T	A	3: 65,684,005	Y54*	probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lzts3	A	T	2: 130,634,945	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812	V628E	probably benign	Het
Mgat5b	A	C	11: 116,968,522		probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,162,593	S443L	probably benign	Het
Mtf1	G	A	4: 124,805,120		probably benign	Het
Myom2	T	C	8: 15,104,068	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,378,003		probably null	Het
Nog	G	C	11: 89,301,776	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,128,270	T795A	probably benign	Het
Olfr1032	A	T	2: 86,008,012	M79L		Het
Olfr1141	A	T	2: 87,753,704	F96L	probably benign	Het
Olfr1251	A	G	2: 89,667,586	F100S	probably damaging	Het
Olfr681	G	A	7: 105,122,016	M186I	probably benign	Het
Prl6a1	A	T	13: 27,318,081	I144L		Het
Rab11fip5	A	G	6: 85,340,910	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 32,978,156		probably benign	Het
Shisa6	A	G	11: 66,220,027	M296T	probably benign	Het
Slc18a1	T	A	8: 69,038,881	T494S	probably benign	Het
Slc23a2	C	T	2: 132,078,412		probably null	Het
Slc2a7	G	T	4: 150,158,544	R274L	probably benign	Het
Spta1	A	G	1: 174,231,345	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,364,669	V3339A	unknown	Het
Tcp10a	G	A	17: 7,326,536	D87N	probably benign	Het
Tgm5	T	G	2: 121,046,789	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,314,840	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,384,349	M50L	probably benign	Het
Ush1c	A	G	7: 46,205,205	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,114,706	T9S	probably benign	Het
Vmn1r26	T	C	6: 58,008,388	Y272C		Het
Vmn1r75	G	T	7: 11,880,586	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,459,944	R769*	probably null	Het
Vps13b	C	A	15: 35,448,647	A589E	probably damaging	Het
Vps13d	G	A	4: 145,171,679	R304W		Het
Vps41	A	G	13: 18,827,605	E294G	probably benign	Het
Xpo7	T	C	14: 70,671,673	T802A	probably benign	Het
Ylpm1	T	A	12: 85,057,278	D2022E		Het
Zfp433	T	A	10: 81,719,890	C75*	probably null	Het
Zyg11a	A	T	4: 108,181,812	S737T	probably benign	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
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'- TCCTGGGGAGATAGCAGAAC -3'
(R):5'- AGCCAAGACGCCTTCATAG -3'

Sequencing Primer
(F):5'- GGGAGATAGCAGAACTTTCTTTTTC -3'
(R):5'- GACGCCTTCATAGTCAAACTACTAG -3'

Posted On

2022-01-20