Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Slc35e4'

252946

Institutional Source

Beutler Lab

Gene Symbol

Slc35e4

Ensembl Gene

ENSMUSG00000048807

Gene Name

solute carrier family 35, member E4

Synonyms

A330108F03Rik

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

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

Stock #

R2862 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

3857022-3864664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3862796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 131 (V131D)

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: V131D

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

SMART Domains

Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: V131D

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: V131D

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

SMART Domains

Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: V131D

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	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
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
R4650:Slc35e4	UTSW	11	3,862,677 (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'- AGACTTGAAGCCTCGCAGAC -3'
(R):5'- TGGATCTTCACAGTGCATGG -3'

Sequencing Primer
(F):5'- TTGAAGCCTCGCAGACAGGTG -3'
(R):5'- TCACAGTGCATGGCTTCG -3'

Posted On

2014-12-04