Mutagenetix > Incidental Mutation

Incidental Mutation 'R5195:Slc35e4'

400140

Institutional Source

Beutler Lab

Gene Symbol

Slc35e4

Ensembl Gene

ENSMUSG00000048807

Gene Name

solute carrier family 35, member E4

Synonyms

A330108F03Rik

MMRRC Submission

042771-MU

Accession Numbers

Essential gene?

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

Stock #

R5195 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

3857022-3864664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3862872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 106 (I106F)

Ref Sequence

ENSEMBL: ENSMUSP00000050978 (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

possibly damaging
Transcript: ENSMUST00000051207
AA Change: I106F

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: I106F

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 benign
Transcript: ENSMUST00000109995
AA Change: I106F

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: I106F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	T	C	13: 107,551,053 (GRCm39)		noncoding transcript	Het
Arhgef40	T	A	14: 52,227,269 (GRCm39)	S438T	possibly damaging	Het
Barhl2	A	G	5: 106,601,305 (GRCm39)	L358P	possibly damaging	Het
Bicra	G	A	7: 15,713,878 (GRCm39)	P775S	possibly damaging	Het
Ccdc78	T	A	17: 26,008,962 (GRCm39)		probably null	Het
Ccnb1-ps	T	A	7: 41,755,522 (GRCm39)		noncoding transcript	Het
Cct6a	A	T	5: 129,871,718 (GRCm39)		noncoding transcript	Het
Cep120	T	A	18: 53,854,770 (GRCm39)	H455L	probably damaging	Het
Cobl	C	T	11: 12,203,565 (GRCm39)	V964I	probably benign	Het
Cpt1a	A	T	19: 3,433,800 (GRCm39)	I761F	possibly damaging	Het
Crk	T	A	11: 75,570,289 (GRCm39)	Y14N	probably damaging	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Fanca	A	G	8: 124,030,684 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,267,398 (GRCm39)	D507V	probably benign	Het
Gtf2i	A	T	5: 134,273,686 (GRCm39)	L740*	probably null	Het
Hmgn2	C	A	4: 133,694,597 (GRCm39)	A8S	probably benign	Het
Hook2	A	T	8: 85,721,405 (GRCm39)	N252I	probably damaging	Het
Igkv19-93	T	A	6: 68,713,510 (GRCm39)	T39S	probably damaging	Het
Inpp5j	A	C	11: 3,449,889 (GRCm39)		probably null	Het
Insyn2a	A	T	7: 134,486,145 (GRCm39)	F469I	probably damaging	Het
Kbtbd3	G	C	9: 4,316,905 (GRCm39)	E19Q	possibly damaging	Het
Kcns2	G	A	15: 34,839,677 (GRCm39)	A347T	possibly damaging	Het
Klhl31	A	G	9: 77,557,572 (GRCm39)	E96G	possibly damaging	Het
Kptn	A	G	7: 15,857,028 (GRCm39)	Y172C	probably damaging	Het
Krt86	T	A	15: 101,374,814 (GRCm39)	M328K	probably benign	Het
Lama1	A	G	17: 68,071,795 (GRCm39)	D894G	probably benign	Het
Lars2	T	C	9: 123,282,375 (GRCm39)	V653A	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lhcgr	A	T	17: 89,050,374 (GRCm39)	V384D	probably damaging	Het
Malrd1	C	T	2: 16,155,621 (GRCm39)	T2010M	unknown	Het
Maml2	T	A	9: 13,532,410 (GRCm39)	N541K	probably damaging	Het
Med24	T	C	11: 98,601,107 (GRCm39)	K585R	possibly damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Mylk	T	A	16: 34,799,585 (GRCm39)	F1658L	probably damaging	Het
Obscn	C	T	11: 58,951,676 (GRCm39)	V4392I	possibly damaging	Het
Or10d5	A	G	9: 39,861,975 (GRCm39)	S31P	probably benign	Het
Or11g2	T	C	14: 50,856,243 (GRCm39)	L188P	probably damaging	Het
Pcnx2	A	T	8: 126,528,288 (GRCm39)	F1311I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,974 (GRCm39)	L521P	probably damaging	Het
Pde4a	A	G	9: 21,115,629 (GRCm39)	T445A	possibly damaging	Het
Pgam5	A	T	5: 110,413,854 (GRCm39)	L103*	probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Polr2a	T	C	11: 69,634,905 (GRCm39)	Y618C	probably damaging	Het
Pramel16	T	A	4: 143,677,450 (GRCm39)	E43V	probably damaging	Het
Pramel5	T	A	4: 143,998,311 (GRCm39)	M311L	probably benign	Het
Rbbp8	T	C	18: 11,855,208 (GRCm39)	F478L	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryk	T	C	9: 102,744,812 (GRCm39)	V122A	probably benign	Het
Sik3	G	T	9: 46,120,142 (GRCm39)		probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc41a3	T	C	6: 90,610,653 (GRCm39)	S172P	probably damaging	Het
Snrnp70	T	A	7: 45,044,134 (GRCm39)	K32N	probably damaging	Het
Spag17	T	C	3: 100,008,704 (GRCm39)	Y1945H	probably benign	Het
St7	A	G	6: 17,743,636 (GRCm39)		probably benign	Het
Stab1	C	A	14: 30,862,478 (GRCm39)		probably benign	Het
Taf13	G	A	3: 108,488,390 (GRCm39)	R91Q	probably damaging	Het
Tmem200a	T	C	10: 25,954,854 (GRCm39)		probably benign	Het
Tnc	A	T	4: 63,885,489 (GRCm39)	L1871Q	probably damaging	Het
Toe1	T	C	4: 116,661,852 (GRCm39)	H439R	probably damaging	Het
Trpm1	T	C	7: 63,887,441 (GRCm39)	V893A	possibly damaging	Het
Ubr3	G	A	2: 69,786,378 (GRCm39)	A831T	probably benign	Het
Wdr89	C	T	12: 75,680,062 (GRCm39)	R64Q	probably benign	Het
Zbed5	G	T	5: 129,931,019 (GRCm39)	V323F	probably benign	Het
Zeb2	T	C	2: 44,891,647 (GRCm39)	R287G	probably 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
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
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'- CTGCAGAGGATGGTGTCTTC -3'
(R):5'- CATGATGACCTCAGCCGAAG -3'

Sequencing Primer
(F):5'- ATGGTGTCTTCGGCCAAGC -3'
(R):5'- TGACCTCAGCCGAAGCAGTTG -3'

Posted On

2016-07-06