Mutagenetix > Incidental Mutations

Incidental Mutation 'R5191:Slc22a30'

398222

Institutional Source

Beutler Lab

Gene Symbol

Slc22a30

Ensembl Gene

ENSMUSG00000052562

Gene Name

solute carrier family 22, member 30

Synonyms

MMRRC Submission

043263-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8335371-8405111 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 8344393 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 436 (Q436*)

Ref Sequence

ENSEMBL: ENSMUSP00000114071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064507] [ENSMUST00000096269] [ENSMUST00000120540]

Predicted Effect

probably benign
Transcript: ENSMUST00000064507

SMART Domains

Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	439	3.1e-21	PFAM
Pfam:MFS_1	127	433	8.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000096269

SMART Domains

Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	527	9.6e-27	PFAM
Pfam:MFS_1	140	376	1.2e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120540
AA Change: Q436*

SMART Domains

Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: Q436*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	435	1.3e-20	PFAM
Pfam:MFS_1	127	435	1.5e-19	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,737,403	I638N	possibly damaging	Het
Acvrl1	A	G	15: 101,137,065	E235G	probably damaging	Het
Adam26b	T	C	8: 43,519,991	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,757	R1407G	probably benign	Het
Aknad1	T	C	3: 108,751,990	S107P	probably benign	Het
Aknad1	G	A	3: 108,752,551	V294I	probably benign	Het
Arfgef2	A	G	2: 166,876,511	T1407A	probably damaging	Het
Atp5a1	C	T	18: 77,780,229	P318S	probably damaging	Het
Atp9a	C	T	2: 168,662,063	V494M	possibly damaging	Het
Ccdc69	A	T	11: 55,052,893		probably null	Het
Crh	T	C	3: 19,693,929	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,802,591	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,201,035	A862T	probably benign	Het
Dact3	T	G	7: 16,875,450	V9G	probably damaging	Het
Dnah8	A	G	17: 30,746,765	E2357G	probably damaging	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Etl4	G	T	2: 20,339,999	S38I	probably damaging	Het
Fyb2	G	T	4: 104,995,797	C558F	possibly damaging	Het
Galnt3	T	C	2: 66,093,706	E406G	probably damaging	Het
Golga3	T	A	5: 110,184,307		probably benign	Het
Gpr179	T	A	11: 97,338,149	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,756,197	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,077,507	V141E	probably damaging	Het
Kcnj2	C	T	11: 111,072,471	Q230*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Limch1	T	C	5: 67,027,561	L631P	probably damaging	Het
Lpin1	T	C	12: 16,580,828	N23S	possibly damaging	Het
Macf1	A	G	4: 123,472,962	S1104P	probably benign	Het
Man2b1	A	G	8: 85,084,459	D73G	probably damaging	Het
Marf1	A	G	16: 14,146,078	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,061,009	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,970,672	E304G	probably damaging	Het
Mst1r	G	A	9: 107,911,551	R423H	probably damaging	Het
Muc20	G	A	16: 32,794,476	S177L	unknown	Het
Muc5b	A	G	7: 141,858,539	T1741A	unknown	Het
Myo1g	C	T	11: 6,515,105	A447T	probably benign	Het
Nr1h2	C	A	7: 44,550,416	A360S	probably damaging	Het
Nufip1	A	G	14: 76,111,989	K154E	probably damaging	Het
Olfr361	T	G	2: 37,084,978	M257L	probably benign	Het
Olfr441	T	A	6: 43,115,866	N41K	probably damaging	Het
Olfr857	G	A	9: 19,713,334	C169Y	probably damaging	Het
Pecr	A	T	1: 72,274,977		probably null	Het
Pkd2	G	A	5: 104,486,681	R526Q	probably benign	Het
Plec	T	C	15: 76,175,165	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sarm1	G	A	11: 78,497,119	Q114*	probably null	Het
Sec31a	T	C	5: 100,405,511	E112G	possibly damaging	Het
Slc9a2	G	T	1: 40,743,893	R439L	probably damaging	Het
Sptb	C	A	12: 76,612,834	E1097D	probably benign	Het
Stk38	A	C	17: 28,974,370	C362G	probably benign	Het
Stmn2	A	T	3: 8,545,575	M40L	probably benign	Het
Sytl2	A	T	7: 90,375,652	T283S	probably damaging	Het
Tcf4	A	G	18: 69,642,883	S48G	probably damaging	Het
Tlr4	A	T	4: 66,841,379	H803L	probably damaging	Het
Ttn	C	T	2: 76,879,088		probably benign	Het
Tyk2	G	T	9: 21,107,497	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,065,694		probably benign	Het
Vmn1r175	A	G	7: 23,809,022	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,867,818	P451T	possibly damaging	Het
Zeb2	T	C	2: 45,002,600	S146G	probably benign	Het
Zfp236	T	A	18: 82,621,423	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,116,023	V174A	probably damaging	Het
Zswim1	G	A	2: 164,826,019	S397N	probably benign	Het

Other mutations in Slc22a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Slc22a30	APN	19	8335788	missense	probably benign	0.29
IGL01894:Slc22a30	APN	19	8386657	missense	probably benign	0.28
IGL02795:Slc22a30	APN	19	8400895	missense	probably damaging	1.00
IGL02798:Slc22a30	APN	19	8370085	missense	probably damaging	0.96
IGL03267:Slc22a30	APN	19	8337958	missense	probably benign	0.00
R0089:Slc22a30	UTSW	19	8370197	missense	probably benign	0.03
R0243:Slc22a30	UTSW	19	8345357	missense	probably benign	0.01
R1033:Slc22a30	UTSW	19	8335801	nonsense	probably null
R1781:Slc22a30	UTSW	19	8335772	missense	probably damaging	1.00
R2098:Slc22a30	UTSW	19	8400811	missense	probably damaging	1.00
R3874:Slc22a30	UTSW	19	8336849	missense	probably benign	0.31
R4091:Slc22a30	UTSW	19	8404545	missense	probably damaging	1.00
R4799:Slc22a30	UTSW	19	8344404	missense	probably benign
R5108:Slc22a30	UTSW	19	8386426	missense	probably damaging	1.00
R5192:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5193:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5195:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5253:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5254:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5255:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5256:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5377:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5378:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5400:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5401:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5481:Slc22a30	UTSW	19	8336837	missense	probably benign	0.01
R5644:Slc22a30	UTSW	19	8404616	missense	possibly damaging	0.72
R5679:Slc22a30	UTSW	19	8335771	missense	possibly damaging	0.90
R5699:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5704:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5706:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5767:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5770:Slc22a30	UTSW	19	8386527	missense	probably damaging	0.99
R5784:Slc22a30	UTSW	19	8344393	nonsense	probably null
R5793:Slc22a30	UTSW	19	8336819	missense	possibly damaging	0.95
R5813:Slc22a30	UTSW	19	8404581	missense	probably benign	0.07
R6101:Slc22a30	UTSW	19	8337868	splice site	probably null
R6105:Slc22a30	UTSW	19	8337868	splice site	probably null
R6327:Slc22a30	UTSW	19	8335722	utr 3 prime	probably benign
R6958:Slc22a30	UTSW	19	8386701	missense	probably damaging	0.98
R7162:Slc22a30	UTSW	19	8336717	splice site	probably null
R7375:Slc22a30	UTSW	19	8404691	missense	probably damaging	1.00
R7572:Slc22a30	UTSW	19	8335708	missense	unknown
R7755:Slc22a30	UTSW	19	8336769	missense	probably damaging	1.00
Z1088:Slc22a30	UTSW	19	8335775	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGATTAACAACCCAACTGGC -3'
(R):5'- AGCTGGTTCTCATGTCCCTGAG -3'

Sequencing Primer
(F):5'- GGCATACATAGTACATACAGTTAGTC -3'
(R):5'- CCTCAAGGTAAGGAAAGAGT -3'

Posted On

2016-07-06