Mutagenetix > Incidental Mutation

Incidental Mutation 'R1367:Slc41a1'

156056

Institutional Source

Beutler Lab

Gene Symbol

Slc41a1

Ensembl Gene

ENSMUSG00000013275

Gene Name

solute carrier family 41, member 1

Synonyms

B230315F01Rik

MMRRC Submission

039432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131755236-131776601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131771746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 387 (T387A)

Ref Sequence

ENSEMBL: ENSMUSP00000083747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086559]

AlphaFold

Q8BJA2

Predicted Effect

probably benign
Transcript: ENSMUST00000086559
AA Change: T387A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: T387A

Domain	Start	End	E-Value	Type
transmembrane domain	97	119	N/A	INTRINSIC
Pfam:MgtE	138	272	1.9e-25	PFAM
transmembrane domain	283	305	N/A	INTRINSIC
transmembrane domain	314	336	N/A	INTRINSIC
Pfam:MgtE	352	496	1.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146360

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 86.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,261,250 (GRCm39)	V676A	probably damaging	Het
Acvr1b	T	C	15: 101,091,819 (GRCm39)	L33P	possibly damaging	Het
Adamts12	T	G	15: 11,256,980 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,601,819 (GRCm39)		probably benign	Het
Arhgef10	T	A	8: 14,990,225 (GRCm39)	D233E	probably damaging	Het
Cd209e	T	C	8: 3,899,084 (GRCm39)	*209W	probably null	Het
Cebpz	A	G	17: 79,230,742 (GRCm39)	V825A	probably benign	Het
Cep170	A	G	1: 176,563,290 (GRCm39)	F1575L	probably damaging	Het
Exoc2	A	T	13: 31,066,256 (GRCm39)	Y473*	probably null	Het
F3	A	G	3: 121,523,023 (GRCm39)	T78A	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Gga2	G	A	7: 121,598,138 (GRCm39)	R319*	probably null	Het
Gid8	A	G	2: 180,355,025 (GRCm39)	I10M	probably benign	Het
Glrb	A	G	3: 80,769,311 (GRCm39)	W139R	probably damaging	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Hectd3	G	T	4: 116,854,367 (GRCm39)	V310L	probably null	Het
Insyn1	G	T	9: 58,406,263 (GRCm39)	D58Y	probably damaging	Het
Kif17	C	A	4: 138,005,305 (GRCm39)	S290*	probably null	Het
Kif26b	A	G	1: 178,744,028 (GRCm39)	N1375D	probably damaging	Het
Lgr4	C	G	2: 109,821,480 (GRCm39)	P121A	probably damaging	Het
Ly75	A	G	2: 60,124,102 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nek3	T	C	8: 22,650,377 (GRCm39)		probably benign	Het
Nin	A	T	12: 70,090,703 (GRCm39)	L904Q	probably damaging	Het
Nlrp14	A	G	7: 106,782,018 (GRCm39)	D405G	probably benign	Het
Nuak1	C	T	10: 84,228,192 (GRCm39)		probably benign	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Plcg2	T	A	8: 118,341,977 (GRCm39)	W1113R	probably damaging	Het
Pms2	G	A	5: 143,862,731 (GRCm39)	V613M	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Pxk	T	G	14: 8,150,915 (GRCm38)		probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Rictor	T	C	15: 6,820,119 (GRCm39)		probably benign	Het
Slc44a2	T	C	9: 21,254,322 (GRCm39)	V228A	probably benign	Het
Slpi	A	G	2: 164,196,787 (GRCm39)		probably benign	Het
Tkfc	A	G	19: 10,570,838 (GRCm39)	S481P	probably benign	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Tns3	T	C	11: 8,398,704 (GRCm39)	H1216R	probably benign	Het
Ugt2b38	A	T	5: 87,571,973 (GRCm39)	S20T	probably benign	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Usp48	T	A	4: 137,371,774 (GRCm39)	S967T	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zdhhc23	A	G	16: 43,794,513 (GRCm39)	S54P	probably benign	Het

Other mutations in Slc41a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Slc41a1	APN	1	131,766,914 (GRCm39)	missense	probably damaging	1.00
IGL01368:Slc41a1	APN	1	131,766,862 (GRCm39)	missense	probably damaging	0.99
R0255:Slc41a1	UTSW	1	131,771,650 (GRCm39)	splice site	probably benign
R0737:Slc41a1	UTSW	1	131,768,690 (GRCm39)	missense	probably damaging	1.00
R1474:Slc41a1	UTSW	1	131,774,319 (GRCm39)	missense	probably damaging	0.98
R1927:Slc41a1	UTSW	1	131,768,938 (GRCm39)	missense	probably damaging	0.99
R4518:Slc41a1	UTSW	1	131,766,863 (GRCm39)	missense	probably damaging	0.99
R4790:Slc41a1	UTSW	1	131,758,690 (GRCm39)	missense	probably damaging	1.00
R4851:Slc41a1	UTSW	1	131,758,508 (GRCm39)	missense	probably benign	0.02
R5180:Slc41a1	UTSW	1	131,772,115 (GRCm39)	missense	probably damaging	0.99
R5633:Slc41a1	UTSW	1	131,774,325 (GRCm39)	missense	possibly damaging	0.68
R6060:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04
R6526:Slc41a1	UTSW	1	131,768,887 (GRCm39)	missense	probably damaging	1.00
R6787:Slc41a1	UTSW	1	131,770,487 (GRCm39)	splice site	probably null
R7038:Slc41a1	UTSW	1	131,769,795 (GRCm39)	missense	possibly damaging	0.60
R7258:Slc41a1	UTSW	1	131,769,780 (GRCm39)	missense	probably benign	0.27
R7382:Slc41a1	UTSW	1	131,774,370 (GRCm39)	missense	probably damaging	1.00
R7405:Slc41a1	UTSW	1	131,766,884 (GRCm39)	missense	probably damaging	1.00
R7432:Slc41a1	UTSW	1	131,758,694 (GRCm39)	missense	probably damaging	1.00
R7574:Slc41a1	UTSW	1	131,766,889 (GRCm39)	missense	probably damaging	1.00
R7873:Slc41a1	UTSW	1	131,758,561 (GRCm39)	missense	possibly damaging	0.62
R7942:Slc41a1	UTSW	1	131,768,635 (GRCm39)	missense	probably damaging	0.99
R7956:Slc41a1	UTSW	1	131,771,766 (GRCm39)	missense	possibly damaging	0.53
R9040:Slc41a1	UTSW	1	131,768,623 (GRCm39)	missense	probably damaging	0.98
R9435:Slc41a1	UTSW	1	131,766,896 (GRCm39)	missense	probably damaging	1.00
R9723:Slc41a1	UTSW	1	131,772,103 (GRCm39)	missense	possibly damaging	0.94
Z1177:Slc41a1	UTSW	1	131,771,724 (GRCm39)	missense	probably benign
Z1189:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04
Z1192:Slc41a1	UTSW	1	131,767,972 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AACAAGGTGTTTTCCTCCCGGTC -3'
(R):5'- TGGAGCAGTGCAGCAGTCATGTAG -3'

Sequencing Primer
(F):5'- CCTTCCTCCTCCAAGTCTGAG -3'
(R):5'- AACGCCGTATTCTAGGTCAG -3'

Posted On

2014-02-11