Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Slc66a1'

450835

Institutional Source

Beutler Lab

Gene Symbol

Slc66a1

Ensembl Gene

ENSMUSG00000028744

Gene Name

solute carrier family 66 member 1

Synonyms

Pqlc2

MMRRC Submission

043328-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139021340-139038019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139027565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 259 (S259N)

Ref Sequence

ENSEMBL: ENSMUSP00000101427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]

AlphaFold

Q8C4N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053862
AA Change: S259N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: S259N

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105801
AA Change: S259N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: S259N

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139840
AA Change: S259N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: S259N

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141007

Predicted Effect

probably damaging
Transcript: ENSMUST00000172747
AA Change: S259N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: S259N

Domain	Start	End	E-Value	Type
CTNS	51	83	8.63e-4	SMART
transmembrane domain	132	149	N/A	INTRINSIC
CTNS	197	228	1.15e-8	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Meta Mutation Damage Score

0.4749

Coding Region Coverage

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

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,786,633 (GRCm39)	Q155L	probably benign	Het
Acadvl	A	C	11: 69,904,029 (GRCm39)	Y242D	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Barx2	A	T	9: 31,770,061 (GRCm39)	F156I	probably damaging	Het
Best1	T	C	19: 9,974,563 (GRCm39)		probably benign	Het
Btbd8	T	C	5: 107,651,514 (GRCm39)	S136P	possibly damaging	Het
Btla	T	A	16: 45,070,936 (GRCm39)	Y298*	probably null	Het
Casr	T	A	16: 36,329,979 (GRCm39)	I452F	probably damaging	Het
Ccser1	C	A	6: 61,288,260 (GRCm39)	P141H	probably benign	Het
Cr2	A	G	1: 194,842,065 (GRCm39)	V296A	probably damaging	Het
Csl	T	A	10: 99,594,877 (GRCm39)	I63F	probably damaging	Het
Dbt	G	A	3: 116,313,952 (GRCm39)	V40M	probably damaging	Het
Fam53b	A	T	7: 132,361,749 (GRCm39)	L93Q	probably damaging	Het
Fdps	T	C	3: 89,002,956 (GRCm39)	I105V	probably damaging	Het
Gm4884	A	G	7: 40,692,643 (GRCm39)	D204G	probably benign	Het
Gm5592	A	G	7: 40,808,003 (GRCm39)		probably benign	Het
Gm7367	A	T	7: 59,805,510 (GRCm39)		noncoding transcript	Het
Grid2	T	A	6: 64,071,416 (GRCm39)	V413D	possibly damaging	Het
Hgf	C	T	5: 16,815,122 (GRCm39)	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,890,313 (GRCm39)	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,376,199 (GRCm39)	R125*	probably null	Het
Kdm4b	T	C	17: 56,658,700 (GRCm39)	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,755,476 (GRCm39)	N93S	probably benign	Het
Klhl6	G	A	16: 19,775,968 (GRCm39)	Q197*	probably null	Het
Medag	T	C	5: 149,345,682 (GRCm39)	V7A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Nckap5	C	T	1: 125,904,662 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,024,020 (GRCm39)	K550R	probably benign	Het
Or2d36	A	G	7: 106,746,748 (GRCm39)	N75S	probably benign	Het
Or2w1b	T	A	13: 21,300,171 (GRCm39)	V103E	probably damaging	Het
Or5h25	T	A	16: 58,930,356 (GRCm39)	I206F	probably damaging	Het
Or7a42	T	C	10: 78,791,318 (GRCm39)	I93T	probably damaging	Het
Parp6	T	C	9: 59,532,010 (GRCm39)	S101P	probably damaging	Het
Plcd3	T	C	11: 102,964,589 (GRCm39)	N594S	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,789,457 (GRCm39)	Y443H	probably damaging	Het
Prnd	G	A	2: 131,795,263 (GRCm39)	V128I	probably benign	Het
Rftn1	G	T	17: 50,309,697 (GRCm39)	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,374,143 (GRCm39)	V445A	probably benign	Het
Serpinb6c	A	T	13: 34,083,291 (GRCm39)	M41K	probably damaging	Het
Spns1	A	G	7: 125,971,641 (GRCm39)	V303A	possibly damaging	Het
Ston1	T	A	17: 88,951,767 (GRCm39)	S639R	probably damaging	Het
Thbs4	T	C	13: 92,913,461 (GRCm39)	D153G	probably benign	Het
Timm44	T	C	8: 4,324,171 (GRCm39)	Y36C	probably damaging	Het
Trim34b	G	T	7: 103,985,618 (GRCm39)	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,404,350 (GRCm39)	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084 (GRCm39)	V412A	probably benign	Het
Zfand1	T	A	3: 10,406,079 (GRCm39)	N210I	probably damaging	Het
Zfhx3	A	G	8: 109,660,499 (GRCm39)	H1251R	probably damaging	Het

Other mutations in Slc66a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01911:Slc66a1	APN	4	139,028,384 (GRCm39)	missense	probably benign	0.01
palanquin	UTSW	4	139,033,752 (GRCm39)	critical splice donor site	probably null
R0030:Slc66a1	UTSW	4	139,033,764 (GRCm39)	missense	probably damaging	1.00
R0332:Slc66a1	UTSW	4	139,027,610 (GRCm39)	missense	possibly damaging	0.68
R1558:Slc66a1	UTSW	4	139,027,391 (GRCm39)	intron	probably benign
R2157:Slc66a1	UTSW	4	139,029,166 (GRCm39)	missense	probably damaging	1.00
R2518:Slc66a1	UTSW	4	139,029,810 (GRCm39)	missense	probably damaging	1.00
R3079:Slc66a1	UTSW	4	139,033,829 (GRCm39)	missense	probably damaging	1.00
R3778:Slc66a1	UTSW	4	139,026,293 (GRCm39)	splice site	probably null
R4401:Slc66a1	UTSW	4	139,033,854 (GRCm39)	missense	probably benign	0.19
R4783:Slc66a1	UTSW	4	139,027,312 (GRCm39)	missense	probably benign	0.00
R4784:Slc66a1	UTSW	4	139,027,312 (GRCm39)	missense	probably benign	0.00
R4785:Slc66a1	UTSW	4	139,027,312 (GRCm39)	missense	probably benign	0.00
R4879:Slc66a1	UTSW	4	139,029,095 (GRCm39)	splice site	probably null
R5126:Slc66a1	UTSW	4	139,029,843 (GRCm39)	missense	probably benign	0.27
R5540:Slc66a1	UTSW	4	139,027,655 (GRCm39)	missense	probably damaging	0.99
R6141:Slc66a1	UTSW	4	139,027,556 (GRCm39)	missense	probably benign	0.32
R6379:Slc66a1	UTSW	4	139,027,296 (GRCm39)	missense	probably benign	0.02
R6905:Slc66a1	UTSW	4	139,033,752 (GRCm39)	critical splice donor site	probably null
R7315:Slc66a1	UTSW	4	139,029,181 (GRCm39)	missense	probably damaging	1.00
R7499:Slc66a1	UTSW	4	139,033,823 (GRCm39)	missense	probably damaging	1.00
R8500:Slc66a1	UTSW	4	139,027,440 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGTCCTGGCTGGGTC -3'
(R):5'- TGGGGTCTCTCACTCAGCC -3'

Sequencing Primer
(F):5'- CTGGATGGGCAGATACACTGG -3'
(R):5'- CCCTCCCCCACAGTTCATACG -3'

Posted On

2017-01-03