Mutagenetix > Incidental Mutation

Incidental Mutation 'R9299:Slc6a21'

704789

Institutional Source

Beutler Lab

Gene Symbol

Slc6a21

Ensembl Gene

ENSMUSG00000070568

Gene Name

solute carrier family 6 member 21

Synonyms

1700039E15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44926937-44938422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44937130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 252 (V252A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]

AlphaFold

A0A1B0GSD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085364
AA Change: V220A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: V220A

Domain	Start	End	E-Value	Type
Pfam:SNF	1	306	8.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210861
AA Change: V545A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	T	9: 57,163,792 (GRCm39)	R861S	possibly damaging	Het
Abca12	T	A	1: 71,359,042 (GRCm39)	N588I	possibly damaging	Het
Adamts9	A	G	6: 92,773,976 (GRCm39)	Y1727H	probably benign	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Alad	C	T	4: 62,429,760 (GRCm39)		probably null	Het
Anapc15-ps	C	A	10: 95,509,077 (GRCm39)	D68Y	probably damaging	Het
Arhgap45	T	C	10: 79,862,565 (GRCm39)	S645P	possibly damaging	Het
Atp9a	A	T	2: 168,554,666 (GRCm39)	M1K	probably null	Het
B020004C17Rik	A	T	14: 57,254,230 (GRCm39)	I118F	probably damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cdc42bpa	C	A	1: 179,972,073 (GRCm39)	L1292I	probably damaging	Het
Clec2e	A	C	6: 129,072,092 (GRCm39)	F96V	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Cyp4a10	A	G	4: 115,376,947 (GRCm39)	M104V	probably benign	Het
Cyth1	C	T	11: 118,059,837 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Dpcd	C	A	19: 45,566,009 (GRCm39)	Q203K	probably damaging	Het
Dph1	T	A	11: 75,070,622 (GRCm39)	Q339L	possibly damaging	Het
Dpy19l3	G	T	7: 35,424,752 (GRCm39)	S187*	probably null	Het
Eva1a	G	T	6: 82,069,047 (GRCm39)	A125S	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Frem2	T	C	3: 53,563,980 (GRCm39)	T176A	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm12888	G	A	4: 121,182,044 (GRCm39)	S16F	unknown	Het
Hsf5	T	A	11: 87,526,770 (GRCm39)	C481S	probably benign	Het
Ifi211	T	A	1: 173,735,288 (GRCm39)	Q47L	probably damaging	Het
Il17re	A	T	6: 113,440,971 (GRCm39)	M202L	probably benign	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Ksr2	G	A	5: 117,885,399 (GRCm39)		probably null	Het
Lrtm1	C	T	14: 28,743,714 (GRCm39)	P61S	probably damaging	Het
Ltk	A	T	2: 119,584,721 (GRCm39)	S487R	possibly damaging	Het
Mis18bp1	A	T	12: 65,185,538 (GRCm39)	D876E	possibly damaging	Het
Nalf1	T	C	8: 9,820,156 (GRCm39)	Y288C	probably damaging	Het
Or8b39	A	G	9: 37,996,785 (GRCm39)	T218A	probably benign	Het
Paqr7	A	G	4: 134,234,311 (GRCm39)	N56S	probably benign	Het
Pcdhb22	G	T	18: 37,651,885 (GRCm39)	E118*	probably null	Het
Pcdhb4	G	A	18: 37,442,264 (GRCm39)	A525T	probably benign	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Pla2g4e	T	A	2: 120,002,204 (GRCm39)	D617V	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Poteg	A	G	8: 27,940,287 (GRCm39)	Y156C	probably benign	Het
Rev3l	T	C	10: 39,723,999 (GRCm39)	S2644P	probably damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Slx9	C	A	10: 77,351,535 (GRCm39)	A14S	possibly damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
St6galnac6	G	T	2: 32,502,345 (GRCm39)	R78L	probably benign	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Tep1	T	C	14: 51,081,988 (GRCm39)		probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Thsd7a	A	G	6: 12,504,131 (GRCm39)	F341S		Het
Tmem82	A	T	4: 141,343,861 (GRCm39)	C136*	probably null	Het
Tmprss11a	A	T	5: 86,570,361 (GRCm39)	C199*	probably null	Het
Zbtb48	T	C	4: 152,105,147 (GRCm39)	N505S	possibly damaging	Het
Zfp385b	A	T	2: 77,246,115 (GRCm39)	V304E	probably damaging	Het

Other mutations in Slc6a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Slc6a21	APN	7	44,937,668 (GRCm39)	missense	probably benign	0.31
IGL01526:Slc6a21	APN	7	44,937,220 (GRCm39)	missense	probably damaging	1.00
IGL01670:Slc6a21	APN	7	44,937,557 (GRCm39)	missense	possibly damaging	0.91
IGL01975:Slc6a21	APN	7	44,937,275 (GRCm39)	missense	probably benign	0.28
IGL02064:Slc6a21	APN	7	44,935,883 (GRCm39)	missense	possibly damaging	0.71
IGL02441:Slc6a21	APN	7	44,937,505 (GRCm39)	missense	probably damaging	1.00
IGL02735:Slc6a21	APN	7	44,936,061 (GRCm39)	splice site	probably benign
IGL03097:Slc6a21	UTSW	7	44,937,592 (GRCm39)	nonsense	probably null
R0211:Slc6a21	UTSW	7	44,937,667 (GRCm39)	missense	possibly damaging	0.90
R0211:Slc6a21	UTSW	7	44,937,667 (GRCm39)	missense	possibly damaging	0.90
R0269:Slc6a21	UTSW	7	44,936,332 (GRCm39)	nonsense	probably null
R0336:Slc6a21	UTSW	7	44,935,892 (GRCm39)	missense	probably damaging	1.00
R1077:Slc6a21	UTSW	7	44,937,626 (GRCm39)	missense	probably benign	0.42
R1476:Slc6a21	UTSW	7	44,922,052 (GRCm39)	missense	probably benign	0.09
R1763:Slc6a21	UTSW	7	44,937,158 (GRCm39)	nonsense	probably null
R1792:Slc6a21	UTSW	7	44,930,155 (GRCm39)	missense	probably benign	0.04
R1796:Slc6a21	UTSW	7	44,930,179 (GRCm39)	missense	probably damaging	1.00
R1812:Slc6a21	UTSW	7	44,932,371 (GRCm39)	missense	probably damaging	1.00
R1868:Slc6a21	UTSW	7	44,937,252 (GRCm39)	missense	probably benign	0.13
R2121:Slc6a21	UTSW	7	44,937,886 (GRCm39)	missense	probably benign	0.04
R2129:Slc6a21	UTSW	7	44,932,197 (GRCm39)	splice site	probably null
R2294:Slc6a21	UTSW	7	44,929,952 (GRCm39)	missense	possibly damaging	0.83
R2295:Slc6a21	UTSW	7	44,929,952 (GRCm39)	missense	possibly damaging	0.83
R2409:Slc6a21	UTSW	7	44,929,750 (GRCm39)	missense	probably benign	0.15
R2858:Slc6a21	UTSW	7	44,929,952 (GRCm39)	missense	possibly damaging	0.83
R3498:Slc6a21	UTSW	7	44,930,266 (GRCm39)	missense	probably damaging	1.00
R3751:Slc6a21	UTSW	7	44,929,928 (GRCm39)	missense	probably benign
R4297:Slc6a21	UTSW	7	44,937,186 (GRCm39)	missense	possibly damaging	0.95
R4510:Slc6a21	UTSW	7	44,936,713 (GRCm39)	missense	probably damaging	1.00
R4511:Slc6a21	UTSW	7	44,936,713 (GRCm39)	missense	probably damaging	1.00
R4876:Slc6a21	UTSW	7	44,929,535 (GRCm39)	nonsense	probably null
R4921:Slc6a21	UTSW	7	44,937,734 (GRCm39)	missense	possibly damaging	0.53
R5485:Slc6a21	UTSW	7	44,931,966 (GRCm39)	critical splice donor site	probably null
R5559:Slc6a21	UTSW	7	44,937,853 (GRCm39)	missense	possibly damaging	0.61
R6305:Slc6a21	UTSW	7	44,930,028 (GRCm39)	missense	possibly damaging	0.88
R6390:Slc6a21	UTSW	7	44,936,426 (GRCm39)	missense	probably benign	0.02
R6571:Slc6a21	UTSW	7	44,930,303 (GRCm39)	missense	probably damaging	0.99
R6792:Slc6a21	UTSW	7	44,929,309 (GRCm39)	start codon destroyed	probably null	0.02
R7235:Slc6a21	UTSW	7	44,930,182 (GRCm39)	missense	probably damaging	0.99
R7278:Slc6a21	UTSW	7	44,931,904 (GRCm39)	missense	possibly damaging	0.84
R7808:Slc6a21	UTSW	7	44,932,360 (GRCm39)	missense
R9047:Slc6a21	UTSW	7	44,936,398 (GRCm39)	missense
R9127:Slc6a21	UTSW	7	44,929,674 (GRCm39)	splice site	probably benign
R9524:Slc6a21	UTSW	7	44,937,785 (GRCm39)	missense	probably benign
R9640:Slc6a21	UTSW	7	44,937,189 (GRCm39)	missense
R9748:Slc6a21	UTSW	7	44,929,941 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAGTCGTGGTTCACTTCTC -3'
(R):5'- GGTCTCTGAGGGTAGGAGATAC -3'

Sequencing Primer
(F):5'- CGTGGTTCACTTCTCATGGG -3'
(R):5'- ATACAGGGCGGGGTGCTG -3'

Posted On

2022-03-25