Mutagenetix > Incidental Mutation

Incidental Mutation 'R4650:Slc35e4'

351230

Institutional Source

Beutler Lab

Gene Symbol

Slc35e4

Ensembl Gene

ENSMUSG00000048807

Gene Name

solute carrier family 35, member E4

Synonyms

A330108F03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3857022-3864664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3862677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 171 (C171R)

Ref Sequence

ENSEMBL: ENSMUSP00000105622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000051207] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109995] [ENSMUST00000109993]

AlphaFold

Q8K3D6

Predicted Effect

probably benign
Transcript: ENSMUST00000020710

SMART Domains

Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000051207
AA Change: C171R

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

SMART Domains

Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: C171R

Domain	Start	End	E-Value	Type
Pfam:EamA	50	179	1.9e-9	PFAM
Pfam:UAA	68	332	2.1e-15	PFAM
Pfam:TPT	188	327	2.5e-19	PFAM
Pfam:EamA	200	326	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109988

SMART Domains

Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109989

SMART Domains

Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109990

SMART Domains

Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109991

SMART Domains

Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	3	331	1.2e-118	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	429	9.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109992

SMART Domains

Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109995
AA Change: C171R

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

SMART Domains

Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: C171R

Domain	Start	End	E-Value	Type
Pfam:EamA	47	179	9.7e-7	PFAM
Pfam:TPT	47	327	6.1e-21	PFAM
Pfam:UAA	56	330	1.3e-7	PFAM
Pfam:EamA	187	327	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109993

SMART Domains

Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432

Domain	Start	End	E-Value	Type
Pfam:Cobalamin_bind	1	333	3.1e-138	PFAM
Pfam:SLBB	332	387	4.3e-7	PFAM
Pfam:DUF4430	355	426	7.9e-11	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	A	16: 88,860,603 (GRCm39)	Y77F	unknown	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Aldoa	A	G	7: 126,396,879 (GRCm39)	S71P	possibly damaging	Het
Arhgef12	A	G	9: 42,893,266 (GRCm39)	V979A	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Brd8	T	C	18: 34,739,752 (GRCm39)	T674A	probably benign	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Capza1	A	G	3: 104,752,296 (GRCm39)	V14A	probably damaging	Het
Cdk2	A	T	10: 128,538,364 (GRCm39)	I135N	probably damaging	Het
Celf4	A	T	18: 25,629,302 (GRCm39)	M407K	possibly damaging	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cideb	A	G	14: 55,992,688 (GRCm39)	V76A	possibly damaging	Het
Dbpht2	C	G	12: 74,345,933 (GRCm39)		noncoding transcript	Het
Dis3l2	A	G	1: 86,918,043 (GRCm39)	D550G	possibly damaging	Het
Dnah1	A	T	14: 31,006,844 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,619,307 (GRCm39)	L1293*	probably null	Het
Elp5	A	G	11: 69,860,398 (GRCm39)	V203A	possibly damaging	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Gjb3	T	C	4: 127,220,484 (GRCm39)	Y16C	probably damaging	Het
Gm5773	A	G	3: 93,680,712 (GRCm39)	D128G	probably benign	Het
Gnb1l	T	C	16: 18,363,025 (GRCm39)		probably null	Het
Gon4l	G	A	3: 88,770,859 (GRCm39)	D514N	possibly damaging	Het
Grhl3	T	A	4: 135,276,547 (GRCm39)		probably null	Het
Hoxc10	T	C	15: 102,875,698 (GRCm39)	S136P	probably benign	Het
Ift22	G	A	5: 136,940,655 (GRCm39)	V107I	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lgi4	G	A	7: 30,768,554 (GRCm39)	A518T	probably benign	Het
Lhx2	T	A	2: 38,250,052 (GRCm39)	N290K	probably damaging	Het
Ltbp4	A	T	7: 27,013,734 (GRCm39)	C1092S	probably damaging	Het
Macf1	T	C	4: 123,367,412 (GRCm39)	I2450V	probably benign	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Myb	A	G	10: 21,028,840 (GRCm39)	L86P	probably damaging	Het
Myh3	C	T	11: 66,977,270 (GRCm39)	T333M	probably damaging	Het
Nek11	T	C	9: 105,225,279 (GRCm39)	N78D	possibly damaging	Het
Nmi	C	A	2: 51,838,646 (GRCm39)	C296F	probably benign	Het
Nphs1	A	T	7: 30,181,895 (GRCm39)	T1163S	probably benign	Het
Npy4r	C	T	14: 33,868,181 (GRCm39)	G369D	possibly damaging	Het
Ola1	T	C	2: 72,972,309 (GRCm39)	T221A	probably damaging	Het
Or51d1	A	G	7: 102,348,027 (GRCm39)	D194G	probably damaging	Het
Or8c11	T	C	9: 38,289,699 (GRCm39)	F168S	probably damaging	Het
Pfkfb2	A	T	1: 130,633,200 (GRCm39)	N184K	possibly damaging	Het
Plce1	T	C	19: 38,513,088 (GRCm39)	V129A	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pth	A	T	7: 112,985,026 (GRCm39)	*116K	probably null	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rwdd3	A	G	3: 120,952,826 (GRCm39)	F55S	probably damaging	Het
Serpinb9d	A	T	13: 33,386,836 (GRCm39)	L301F	probably benign	Het
Slco1a4	A	T	6: 141,758,424 (GRCm39)	I529K	possibly damaging	Het
Styk1	A	T	6: 131,277,532 (GRCm39)	W370R	probably damaging	Het
Tmprss11e	C	A	5: 86,875,212 (GRCm39)	W18L	probably damaging	Het
Trpv1	A	C	11: 73,129,089 (GRCm39)	E2A	probably benign	Het
Unc13b	T	A	4: 43,261,035 (GRCm39)	I1799N	probably damaging	Het
Vmn1r213	G	A	13: 23,196,422 (GRCm39)	C335Y	possibly damaging	Het
Vps37c	C	T	19: 10,690,273 (GRCm39)	S245L	probably benign	Het
Wrn	T	C	8: 33,745,537 (GRCm39)	T1191A	probably benign	Het
Zfp13	A	G	17: 23,799,112 (GRCm39)	L153P	probably damaging	Het
Zfp472	T	G	17: 33,196,631 (GRCm39)	S235R	possibly damaging	Het

Other mutations in Slc35e4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02350:Slc35e4	APN	11	3,862,640 (GRCm39)	missense	probably benign	0.00
IGL02357:Slc35e4	APN	11	3,862,640 (GRCm39)	missense	probably benign	0.00
IGL02631:Slc35e4	APN	11	3,857,729 (GRCm39)	missense	probably damaging	0.99
R2213:Slc35e4	UTSW	11	3,863,159 (GRCm39)	missense	possibly damaging	0.62
R2862:Slc35e4	UTSW	11	3,862,796 (GRCm39)	missense	probably damaging	1.00
R3730:Slc35e4	UTSW	11	3,862,577 (GRCm39)	missense	possibly damaging	0.84
R3948:Slc35e4	UTSW	11	3,862,970 (GRCm39)	missense	probably damaging	1.00
R4818:Slc35e4	UTSW	11	3,862,889 (GRCm39)	missense	probably benign	0.01
R5195:Slc35e4	UTSW	11	3,862,872 (GRCm39)	missense	possibly damaging	0.57
R6488:Slc35e4	UTSW	11	3,862,602 (GRCm39)	missense	possibly damaging	0.93
R7094:Slc35e4	UTSW	11	3,863,118 (GRCm39)	missense	probably benign
R7259:Slc35e4	UTSW	11	3,862,530 (GRCm39)	splice site	probably null
R7316:Slc35e4	UTSW	11	3,862,584 (GRCm39)	missense	probably damaging	1.00
R8831:Slc35e4	UTSW	11	3,863,087 (GRCm39)	missense	possibly damaging	0.62
RF005:Slc35e4	UTSW	11	3,857,960 (GRCm39)	missense	possibly damaging	0.88
RF024:Slc35e4	UTSW	11	3,857,960 (GRCm39)	missense	possibly damaging	0.88
Z1176:Slc35e4	UTSW	11	3,863,156 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TTTCCCAGGAACATCACGG -3'
(R):5'- GCTTTCAGCACTGCACATGC -3'

Sequencing Primer
(F):5'- GGAACATCACGGCCACAC -3'
(R):5'- ACTGCACATGCTGGCAG -3'

Posted On

2015-10-08