Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Slc22a27'

701339

Institutional Source

Beutler Lab

Gene Symbol

Slc22a27

Ensembl Gene

ENSMUSG00000067656

Gene Name

solute carrier family 22, member 27

Synonyms

AB056442, mOAT6 related protein

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7841753-7943392 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7874209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 289 (T289A)

Ref Sequence

ENSEMBL: ENSMUSP00000093991 (fasta)

Gene Model

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

AlphaFold

Q76M72

Predicted Effect

probably benign
Transcript: ENSMUST00000075619
AA Change: T289A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: T289A

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

possibly damaging
Transcript: ENSMUST00000182102
AA Change: T181A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: T181A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdh2	G	A	18: 16,781,654 (GRCm39)	Q146*	probably null	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	Het

Other mutations in Slc22a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Slc22a27	APN	19	7,887,108 (GRCm39)	missense	possibly damaging	0.93
IGL02516:Slc22a27	APN	19	7,842,176 (GRCm39)	missense	probably damaging	0.99
IGL02961:Slc22a27	APN	19	7,903,886 (GRCm39)	missense	probably damaging	0.99
IGL03008:Slc22a27	APN	19	7,887,067 (GRCm39)	missense	possibly damaging	0.92
PIT4544001:Slc22a27	UTSW	19	7,887,103 (GRCm39)	missense	probably damaging	1.00
R0172:Slc22a27	UTSW	19	7,843,201 (GRCm39)	nonsense	probably null
R0234:Slc22a27	UTSW	19	7,904,156 (GRCm39)	start gained	probably benign
R0234:Slc22a27	UTSW	19	7,904,156 (GRCm39)	start gained	probably benign
R0280:Slc22a27	UTSW	19	7,874,187 (GRCm39)	nonsense	probably null
R0561:Slc22a27	UTSW	19	7,857,527 (GRCm39)	critical splice donor site	probably null
R0597:Slc22a27	UTSW	19	7,843,249 (GRCm39)	missense	probably benign	0.00
R1005:Slc22a27	UTSW	19	7,904,116 (GRCm39)	missense	probably damaging	1.00
R1165:Slc22a27	UTSW	19	7,887,059 (GRCm39)	splice site	probably null
R1217:Slc22a27	UTSW	19	7,904,033 (GRCm39)	missense	probably benign	0.01
R1533:Slc22a27	UTSW	19	7,844,348 (GRCm39)	missense	possibly damaging	0.79
R1940:Slc22a27	UTSW	19	7,887,092 (GRCm39)	missense	probably damaging	1.00
R3714:Slc22a27	UTSW	19	7,903,815 (GRCm39)	missense	possibly damaging	0.75
R3959:Slc22a27	UTSW	19	7,887,414 (GRCm39)	missense	probably damaging	1.00
R4059:Slc22a27	UTSW	19	7,856,973 (GRCm39)	splice site	probably benign
R4249:Slc22a27	UTSW	19	7,903,244 (GRCm39)	missense	possibly damaging	0.64
R4748:Slc22a27	UTSW	19	7,903,241 (GRCm39)	missense	probably benign
R5220:Slc22a27	UTSW	19	7,843,303 (GRCm39)	missense	probably damaging	0.96
R5221:Slc22a27	UTSW	19	7,843,303 (GRCm39)	missense	probably damaging	0.96
R5232:Slc22a27	UTSW	19	7,843,303 (GRCm39)	missense	probably damaging	0.96
R5330:Slc22a27	UTSW	19	7,856,820 (GRCm39)	missense	probably benign	0.13
R5331:Slc22a27	UTSW	19	7,856,820 (GRCm39)	missense	probably benign	0.13
R5345:Slc22a27	UTSW	19	7,843,303 (GRCm39)	missense	probably damaging	0.96
R5427:Slc22a27	UTSW	19	7,856,753 (GRCm39)	critical splice donor site	probably null
R5534:Slc22a27	UTSW	19	7,903,996 (GRCm39)	missense	probably damaging	1.00
R5691:Slc22a27	UTSW	19	7,904,035 (GRCm39)	missense	possibly damaging	0.90
R5828:Slc22a27	UTSW	19	7,903,767 (GRCm39)	missense	probably damaging	1.00
R5878:Slc22a27	UTSW	19	7,904,122 (GRCm39)	missense	probably benign	0.01
R5918:Slc22a27	UTSW	19	7,887,411 (GRCm39)	missense	possibly damaging	0.91
R6185:Slc22a27	UTSW	19	7,903,953 (GRCm39)	missense	probably benign	0.14
R6901:Slc22a27	UTSW	19	7,903,944 (GRCm39)	missense	probably damaging	1.00
R7139:Slc22a27	UTSW	19	7,903,912 (GRCm39)	missense	probably damaging	1.00
R7336:Slc22a27	UTSW	19	7,904,054 (GRCm39)	missense	probably benign	0.02
R7502:Slc22a27	UTSW	19	7,903,747 (GRCm39)	missense	probably damaging	1.00
R7556:Slc22a27	UTSW	19	7,843,119 (GRCm39)	missense	probably damaging	0.98
R7737:Slc22a27	UTSW	19	7,874,127 (GRCm39)	missense	probably damaging	0.99
R7860:Slc22a27	UTSW	19	7,887,472 (GRCm39)	critical splice acceptor site	probably null
R8050:Slc22a27	UTSW	19	7,857,532 (GRCm39)	missense	probably benign	0.18
R8090:Slc22a27	UTSW	19	7,843,101 (GRCm39)	splice site	probably null
R8150:Slc22a27	UTSW	19	7,887,390 (GRCm39)	missense	possibly damaging	0.87
R8974:Slc22a27	UTSW	19	7,903,751 (GRCm39)	missense	probably damaging	1.00
R9425:Slc22a27	UTSW	19	7,874,156 (GRCm39)	missense	probably damaging	1.00
R9520:Slc22a27	UTSW	19	7,843,227 (GRCm39)	missense	possibly damaging	0.94
R9731:Slc22a27	UTSW	19	7,904,126 (GRCm39)	nonsense	probably null
RF012:Slc22a27	UTSW	19	7,903,949 (GRCm39)	missense	probably benign	0.07
Z1177:Slc22a27	UTSW	19	7,887,095 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGTGTTCTTAATGACAGCATAGTAC -3'
(R):5'- TGCATTTCAGAAGTGCAGTCC -3'

Sequencing Primer
(F):5'- TGACAGCATAGTACATCTTGGGCAC -3'
(R):5'- CAGAAGTGCAGTCCATTATGTG -3'

Posted On

2022-03-25