Mutagenetix > Incidental Mutations

Incidental Mutation 'R6309:Slc37a3'

509729

Institutional Source

Beutler Lab

Gene Symbol

Slc37a3

Ensembl Gene

ENSMUSG00000029924

Gene Name

solute carrier family 37 (glycerol-3-phosphate transporter), member 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39334773-39377675 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 39357460 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 84 (*84W)

Ref Sequence

ENSEMBL: ENSMUSP00000144636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090243] [ENSMUST00000200771] [ENSMUST00000200961] [ENSMUST00000200969] [ENSMUST00000201448] [ENSMUST00000202204] [ENSMUST00000202400] [ENSMUST00000202749]

Predicted Effect

probably benign
Transcript: ENSMUST00000090243
AA Change: I105M

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: I105M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	23	420	3.8e-37	PFAM
Pfam:Sugar_tr	27	262	2.5e-8	PFAM
transmembrane domain	423	445	N/A	INTRINSIC
transmembrane domain	455	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200771

SMART Domains

Protein: ENSMUSP00000143953
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200961
AA Change: I105M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144562
Gene: ENSMUSG00000029924
AA Change: I105M

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200969

SMART Domains

Protein: ENSMUSP00000144244
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201448
AA Change: I105M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144059
Gene: ENSMUSG00000029924
AA Change: I105M

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202204

SMART Domains

Protein: ENSMUSP00000144316
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202400
AA Change: I105M

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144557
Gene: ENSMUSG00000029924
AA Change: I105M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	12	173	2.3e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000202749
AA Change: *84W

SMART Domains

Protein: ENSMUSP00000144636
Gene: ENSMUSG00000029924
AA Change: *84W

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

92% (35/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,969,393		probably null	Het
Ak4	T	C	4: 101,463,662	Y223H	probably benign	Het
Armc4	A	G	18: 7,214,617	V728A	probably benign	Het
Cerk	T	C	15: 86,156,668		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Col18a1	A	G	10: 77,112,742		probably benign	Het
Cpeb3	T	G	19: 37,044,689	I569L	possibly damaging	Het
Dis3	A	T	14: 99,085,922	N569K	probably benign	Het
Erich5	T	C	15: 34,471,456	L277P	probably benign	Het
Fam171b	T	C	2: 83,860,460	S256P	probably damaging	Het
Glis3	A	G	19: 28,317,361	V679A	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm8212	A	G	14: 44,201,179		probably benign	Het
Grin2b	T	A	6: 135,733,027	T1174S	probably benign	Het
Hipk2	T	C	6: 38,698,511	Y1045C	probably damaging	Het
Hsf2	C	T	10: 57,486,580		probably benign	Het
Ighv1-4	G	T	12: 114,487,395	A31E	probably benign	Het
Il11ra1	A	G	4: 41,765,279	K151E	possibly damaging	Het
Inpp4b	T	A	8: 82,041,917	M685K	probably damaging	Het
Itga4	T	A	2: 79,279,085	D209E	probably damaging	Het
L1td1	T	C	4: 98,737,091	S508P	probably damaging	Het
Lrrn3	G	A	12: 41,453,206	R371C	probably damaging	Het
Nbeal1	A	G	1: 60,238,719	T755A	probably benign	Het
Olfr129	T	A	17: 38,055,152	Y138F	probably damaging	Het
Olfr134	T	C	17: 38,175,519	V145A	probably benign	Het
Phf24	A	G	4: 42,933,960	D14G	probably damaging	Het
Prkd1	A	T	12: 50,394,660	C314*	probably null	Het
Rnf187	A	T	11: 58,937,160	S155T	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Homo
Scn10a	A	G	9: 119,624,115	I1237T	possibly damaging	Het
Sec16a	T	C	2: 26,438,571	N1144S	probably benign	Het
Sh3tc2	T	C	18: 61,968,010	V58A	probably damaging	Het
Trpm2	T	A	10: 77,938,368	I466F	probably damaging	Het
Vmn2r108	T	A	17: 20,471,398	I288F	probably damaging	Het
Vmn2r67	T	C	7: 85,151,916	T271A	probably benign	Het
Vsig10l	A	G	7: 43,470,973		probably null	Het
Wdr95	A	G	5: 149,580,803		probably null	Het
Zfp960	T	C	17: 17,088,377	I451T	probably benign	Het

Other mutations in Slc37a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Slc37a3	APN	6	39337262	missense	probably damaging	1.00
IGL02447:Slc37a3	APN	6	39337195	missense	probably benign	0.00
IGL03017:Slc37a3	APN	6	39349381	missense	probably benign	0.13
IGL03142:Slc37a3	APN	6	39359985	splice site	probably null
IGL03164:Slc37a3	APN	6	39345303	missense	probably benign	0.02
R0240:Slc37a3	UTSW	6	39337238	missense	probably benign	0.02
R0551:Slc37a3	UTSW	6	39352754	unclassified	probably benign
R1453:Slc37a3	UTSW	6	39366943	missense	probably damaging	1.00
R1866:Slc37a3	UTSW	6	39359968	missense	probably damaging	1.00
R2242:Slc37a3	UTSW	6	39338805	missense	probably benign	0.00
R4410:Slc37a3	UTSW	6	39338813	missense	probably benign
R4784:Slc37a3	UTSW	6	39337223	missense	probably benign	0.12
R4983:Slc37a3	UTSW	6	39352717	nonsense	probably null
R5543:Slc37a3	UTSW	6	39355026	missense	probably damaging	1.00
R7849:Slc37a3	UTSW	6	39364583	missense	possibly damaging	0.74
R7872:Slc37a3	UTSW	6	39347310	missense	probably damaging	1.00
R7932:Slc37a3	UTSW	6	39364583	missense	possibly damaging	0.74
R7955:Slc37a3	UTSW	6	39347310	missense	probably damaging	1.00
R8062:Slc37a3	UTSW	6	39364596	missense	probably damaging	1.00
Z1177:Slc37a3	UTSW	6	39350076	missense	possibly damaging	0.92
Z1177:Slc37a3	UTSW	6	39355011	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTGGTCAAAAGAGCATTAACTG -3'
(R):5'- CTGAAGCACTGACATTCATAGACAG -3'

Sequencing Primer
(F):5'- GTCTCTCTCCACAGTGTGATCAGAG -3'
(R):5'- TCCCAGCGTAGACTGTTA -3'

Posted On

2018-04-02