Mutagenetix > Incidental Mutation

Incidental Mutation 'R8500:Slc66a1'

658464

Institutional Source

Beutler Lab

Gene Symbol

Slc66a1

Ensembl Gene

ENSMUSG00000028744

Gene Name

solute carrier family 66 member 1

Synonyms

Pqlc2

MMRRC Submission

067942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8500 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139021340-139038019 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 139027440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134464 (fasta)

Gene Model

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

AlphaFold

Q8C4N4

Predicted Effect

probably benign
Transcript: ENSMUST00000053862

SMART Domains

Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744

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

unknown
Transcript: ENSMUST00000105801
AA Change: Y301H

SMART Domains

Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: Y301H

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 benign
Transcript: ENSMUST00000139840

SMART Domains

Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744

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 benign
Transcript: ENSMUST00000172747

SMART Domains

Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,871,836 (GRCm39)	S56N	probably benign	Het
Atg16l2	T	G	7: 100,939,473 (GRCm39)	D542A	probably damaging	Het
Blm	A	G	7: 80,105,032 (GRCm39)	L1412P	probably damaging	Het
Cdc37	T	C	9: 21,052,097 (GRCm39)	D314G	probably damaging	Het
Cela1	T	A	15: 100,573,213 (GRCm39)	M39L	probably benign	Het
Col12a1	T	A	9: 79,517,133 (GRCm39)	D2849V	probably damaging	Het
Fam53c	A	G	18: 34,901,854 (GRCm39)	E257G	probably damaging	Het
Fmo9	A	T	1: 166,502,039 (GRCm39)	N144K	probably damaging	Het
Gabrd	T	A	4: 155,470,148 (GRCm39)	M354L	probably benign	Het
Gm5773	A	T	3: 93,680,835 (GRCm39)	D169V	probably benign	Het
Gria2	A	T	3: 80,599,774 (GRCm39)	F703L	probably damaging	Het
Grm3	A	T	5: 9,561,726 (GRCm39)	I708N	probably benign	Het
Hlcs	G	A	16: 94,063,617 (GRCm39)	P481L	possibly damaging	Het
Ifi206	T	C	1: 173,314,311 (GRCm39)	Y43C		Het
Igf2r	A	G	17: 12,928,328 (GRCm39)	L1005P	probably damaging	Het
Ighv2-6-8	T	C	12: 113,759,834 (GRCm39)	N92D	possibly damaging	Het
Invs	A	G	4: 48,422,109 (GRCm39)	K914E	probably damaging	Het
Iqsec3	T	C	6: 121,389,813 (GRCm39)		probably benign	Het
Klra6	T	C	6: 129,999,660 (GRCm39)	T103A	probably benign	Het
Lipo5	C	T	19: 33,441,849 (GRCm39)		probably null	Het
Llgl1	T	C	11: 60,595,809 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,698,292 (GRCm39)	E402G	probably benign	Het
Lrp1b	T	A	2: 41,396,791 (GRCm39)	Y311F	probably benign	Het
Lrrc8a	T	A	2: 30,146,208 (GRCm39)	W341R	possibly damaging	Het
Lrriq1	A	G	10: 102,882,016 (GRCm39)	I117T		Het
Mmp9	T	C	2: 164,795,486 (GRCm39)	V668A	possibly damaging	Het
Naip5	A	C	13: 100,359,220 (GRCm39)	M672R	probably damaging	Het
Ncam1	A	T	9: 49,431,445 (GRCm39)	L664Q	probably damaging	Het
Nol4l	T	C	2: 153,278,266 (GRCm39)	D234G	probably damaging	Het
Or5t16	T	C	2: 86,818,822 (GRCm39)	K233E	probably damaging	Het
Oscp1	T	A	4: 125,971,203 (GRCm39)	H170Q	possibly damaging	Het
Pard3	T	A	8: 128,186,784 (GRCm39)	M1021K	probably damaging	Het
Pkd1l2	T	A	8: 117,774,302 (GRCm39)		probably null	Het
Plcxd2	T	C	16: 45,800,949 (GRCm39)	K92E	probably damaging	Het
Ptpdc1	A	T	13: 48,739,759 (GRCm39)	C557*	probably null	Het
Robo2	G	A	16: 73,745,228 (GRCm39)	T849I	probably damaging	Het
Rp1	A	T	1: 4,416,813 (GRCm39)	I1433N	possibly damaging	Het
Scarb1	A	G	5: 125,371,227 (GRCm39)	S282P	probably damaging	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sf3a1	T	A	11: 4,125,039 (GRCm39)	S357T	probably benign	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc1a3	T	C	15: 8,671,853 (GRCm39)	T368A	probably damaging	Het
Taf11	A	T	17: 28,121,594 (GRCm39)	I138N	probably damaging	Het
Tnfaip8l1	C	T	17: 56,478,749 (GRCm39)	A13V	probably damaging	Het
Trav6-2	T	G	14: 52,905,092 (GRCm39)	F38V	probably benign	Het
Vmn2r73	A	G	7: 85,519,638 (GRCm39)	V440A	probably benign	Het
Zfp292	A	G	4: 34,826,691 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,538,828 (GRCm39)	C205*	probably null	Het
Zfp735	C	G	11: 73,601,811 (GRCm39)	L252V	possibly damaging	Het
Zfyve26	A	T	12: 79,334,454 (GRCm39)	L188Q	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
R5700:Slc66a1	UTSW	4	139,027,565 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TTGCTCACTGATGGGACTGG -3'
(R):5'- AAGGCATCTCCTACTCGCTG -3'

Sequencing Primer
(F):5'- CATCATGGATGGACTGATGGACAC -3'
(R):5'- ATGCTGGGGAACACGCTGTAC -3'

Posted On

2021-01-18