Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Slc22a30'

697349

Institutional Source

Beutler Lab

Gene Symbol

Slc22a30

Ensembl Gene

ENSMUSG00000052562

Gene Name

solute carrier family 22, member 30

Synonyms

C730048C13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8312735-8382475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8321917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 414 (S414P)

Ref Sequence

ENSEMBL: ENSMUSP00000093988 (fasta)

Gene Model

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

AlphaFold

Q96LX3

Predicted Effect

probably benign
Transcript: ENSMUST00000064507
AA Change: S414P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069461
Gene: ENSMUSG00000052562
AA Change: S414P

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
AA Change: S414P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093988
Gene: ENSMUSG00000052562
AA Change: S414P

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 benign
Transcript: ENSMUST00000120540
AA Change: S414P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114071
Gene: ENSMUSG00000052562
AA Change: S414P

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	Het

Other mutations in Slc22a30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Slc22a30	APN	19	8,313,152 (GRCm39)	missense	probably benign	0.29
IGL01894:Slc22a30	APN	19	8,364,021 (GRCm39)	missense	probably benign	0.28
IGL02795:Slc22a30	APN	19	8,378,259 (GRCm39)	missense	probably damaging	1.00
IGL02798:Slc22a30	APN	19	8,347,449 (GRCm39)	missense	probably damaging	0.96
IGL03267:Slc22a30	APN	19	8,315,322 (GRCm39)	missense	probably benign	0.00
R0089:Slc22a30	UTSW	19	8,347,561 (GRCm39)	missense	probably benign	0.03
R0243:Slc22a30	UTSW	19	8,322,721 (GRCm39)	missense	probably benign	0.01
R1033:Slc22a30	UTSW	19	8,313,165 (GRCm39)	nonsense	probably null
R1781:Slc22a30	UTSW	19	8,313,136 (GRCm39)	missense	probably damaging	1.00
R2098:Slc22a30	UTSW	19	8,378,175 (GRCm39)	missense	probably damaging	1.00
R3874:Slc22a30	UTSW	19	8,314,213 (GRCm39)	missense	probably benign	0.31
R4091:Slc22a30	UTSW	19	8,381,909 (GRCm39)	missense	probably damaging	1.00
R4799:Slc22a30	UTSW	19	8,321,768 (GRCm39)	missense	probably benign
R5108:Slc22a30	UTSW	19	8,363,790 (GRCm39)	missense	probably damaging	1.00
R5191:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5192:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5193:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5195:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5253:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5254:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5255:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5256:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5377:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5378:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5400:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5401:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5481:Slc22a30	UTSW	19	8,314,201 (GRCm39)	missense	probably benign	0.01
R5644:Slc22a30	UTSW	19	8,381,980 (GRCm39)	missense	possibly damaging	0.72
R5679:Slc22a30	UTSW	19	8,313,135 (GRCm39)	missense	possibly damaging	0.90
R5699:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5704:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5706:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5767:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5770:Slc22a30	UTSW	19	8,363,891 (GRCm39)	missense	probably damaging	0.99
R5784:Slc22a30	UTSW	19	8,321,757 (GRCm39)	nonsense	probably null
R5793:Slc22a30	UTSW	19	8,314,183 (GRCm39)	missense	possibly damaging	0.95
R5813:Slc22a30	UTSW	19	8,381,945 (GRCm39)	missense	probably benign	0.07
R6101:Slc22a30	UTSW	19	8,315,232 (GRCm39)	splice site	probably null
R6105:Slc22a30	UTSW	19	8,315,232 (GRCm39)	splice site	probably null
R6327:Slc22a30	UTSW	19	8,313,086 (GRCm39)	utr 3 prime	probably benign
R6958:Slc22a30	UTSW	19	8,364,065 (GRCm39)	missense	probably damaging	0.98
R7162:Slc22a30	UTSW	19	8,314,081 (GRCm39)	splice site	probably null
R7375:Slc22a30	UTSW	19	8,382,055 (GRCm39)	missense	probably damaging	1.00
R7572:Slc22a30	UTSW	19	8,313,072 (GRCm39)	missense	unknown
R7755:Slc22a30	UTSW	19	8,314,133 (GRCm39)	missense	probably damaging	1.00
R8114:Slc22a30	UTSW	19	8,381,904 (GRCm39)	nonsense	probably null
R8248:Slc22a30	UTSW	19	8,347,563 (GRCm39)	missense	probably benign	0.12
R8677:Slc22a30	UTSW	19	8,364,035 (GRCm39)	missense	probably benign	0.21
R8854:Slc22a30	UTSW	19	8,363,754 (GRCm39)	critical splice donor site	probably null
R8900:Slc22a30	UTSW	19	8,315,340 (GRCm39)	missense	probably damaging	1.00
R9296:Slc22a30	UTSW	19	8,364,119 (GRCm39)	missense	probably benign	0.06
R9463:Slc22a30	UTSW	19	8,378,259 (GRCm39)	missense	probably damaging	1.00
R9773:Slc22a30	UTSW	19	8,321,754 (GRCm39)	missense	probably benign	0.01
Z1088:Slc22a30	UTSW	19	8,313,139 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTTCCAGCATGGCAACC -3'
(R):5'- TGGTGGCTATAAAATGATACCCTAG -3'

Sequencing Primer
(F):5'- CCAGCATGGCAACCAGAAATTATTTG -3'
(R):5'- TGATACCCTAGATGTAAATAATCCCC -3'

Posted On

2022-02-07