Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Slc22a27'

37483

Institutional Source

Beutler Lab

Gene Symbol

Slc22a27

Ensembl Gene

ENSMUSG00000067656

Gene Name

solute carrier family 22, member 27

Synonyms

mOAT6 related protein, AB056442

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7864388-7966027 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 7896822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 188 (L188*)

Ref Sequence

ENSEMBL: ENSMUSP00000138475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]

AlphaFold

Q76M72

Predicted Effect

probably null
Transcript: ENSMUST00000075619
AA Change: L296*

SMART Domains

Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: L296*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	528	1.5e-25	PFAM
Pfam:MFS_1	140	372	1.3e-15	PFAM
Pfam:MFS_1	349	549	8.3e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000182102
AA Change: L188*

SMART Domains

Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: L188*

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:MFS_1	241	441	1.2e-11	PFAM

Meta Mutation Damage Score

0.9660

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	Het

Other mutations in Slc22a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Slc22a27	APN	19	7909743	missense	possibly damaging	0.93
IGL02516:Slc22a27	APN	19	7864811	missense	probably damaging	0.99
IGL02961:Slc22a27	APN	19	7926521	missense	probably damaging	0.99
IGL03008:Slc22a27	APN	19	7909702	missense	possibly damaging	0.92
PIT4544001:Slc22a27	UTSW	19	7909738	missense	probably damaging	1.00
R0172:Slc22a27	UTSW	19	7865836	nonsense	probably null
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0561:Slc22a27	UTSW	19	7880162	critical splice donor site	probably null
R0597:Slc22a27	UTSW	19	7865884	missense	probably benign	0.00
R1005:Slc22a27	UTSW	19	7926751	missense	probably damaging	1.00
R1165:Slc22a27	UTSW	19	7909694	splice site	probably null
R1217:Slc22a27	UTSW	19	7926668	missense	probably benign	0.01
R1533:Slc22a27	UTSW	19	7866983	missense	possibly damaging	0.79
R1940:Slc22a27	UTSW	19	7909727	missense	probably damaging	1.00
R3714:Slc22a27	UTSW	19	7926450	missense	possibly damaging	0.75
R3959:Slc22a27	UTSW	19	7910049	missense	probably damaging	1.00
R4059:Slc22a27	UTSW	19	7879608	splice site	probably benign
R4249:Slc22a27	UTSW	19	7925879	missense	possibly damaging	0.64
R4748:Slc22a27	UTSW	19	7925876	missense	probably benign
R5220:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5221:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5232:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5330:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5331:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5345:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5427:Slc22a27	UTSW	19	7879388	critical splice donor site	probably null
R5534:Slc22a27	UTSW	19	7926631	missense	probably damaging	1.00
R5691:Slc22a27	UTSW	19	7926670	missense	possibly damaging	0.90
R5828:Slc22a27	UTSW	19	7926402	missense	probably damaging	1.00
R5878:Slc22a27	UTSW	19	7926757	missense	probably benign	0.01
R5918:Slc22a27	UTSW	19	7910046	missense	possibly damaging	0.91
R6185:Slc22a27	UTSW	19	7926588	missense	probably benign	0.14
R6901:Slc22a27	UTSW	19	7926579	missense	probably damaging	1.00
R7139:Slc22a27	UTSW	19	7926547	missense	probably damaging	1.00
R7336:Slc22a27	UTSW	19	7926689	missense	probably benign	0.02
R7502:Slc22a27	UTSW	19	7926382	missense	probably damaging	1.00
R7556:Slc22a27	UTSW	19	7865754	missense	probably damaging	0.98
R7737:Slc22a27	UTSW	19	7896762	missense	probably damaging	0.99
R7860:Slc22a27	UTSW	19	7910107	critical splice acceptor site	probably null
R8050:Slc22a27	UTSW	19	7880167	missense	probably benign	0.18
R8090:Slc22a27	UTSW	19	7865736	splice site	probably null
R8150:Slc22a27	UTSW	19	7910025	missense	possibly damaging	0.87
R8974:Slc22a27	UTSW	19	7926386	missense	probably damaging	1.00
R9246:Slc22a27	UTSW	19	7896844	missense	probably benign	0.36
R9425:Slc22a27	UTSW	19	7896791	missense	probably damaging	1.00
RF012:Slc22a27	UTSW	19	7926584	missense	probably benign	0.07
Z1177:Slc22a27	UTSW	19	7909730	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACACGCAGTGTTCTTAATGACAGC -3'
(R):5'- TTCAGAAGTGCAGTCCATTATGTGGC -3'

Sequencing Primer
(F):5'- TGACAGCATAGTACATCTTGGGC -3'
(R):5'- GTGCAGTCCATTATGTGGCTAAATC -3'

Posted On

2013-05-23