Mutagenetix > Incidental Mutation

Incidental Mutation 'R7606:Slc35a4'

588333

Institutional Source

Beutler Lab

Gene Symbol

Slc35a4

Ensembl Gene

ENSMUSG00000033272

Gene Name

solute carrier family 35, member A4

Synonyms

2610030J16Rik

MMRRC Submission

045676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R7606 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36812268-36816914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36815638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 156 (Y156C)

Ref Sequence

ENSEMBL: ENSMUSP00000036081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001415] [ENSMUST00000036158] [ENSMUST00000050476] [ENSMUST00000115682] [ENSMUST00000185899] [ENSMUST00000186538]

AlphaFold

Q9D321

Predicted Effect

probably benign
Transcript: ENSMUST00000001415

SMART Domains

Protein: ENSMUSP00000001415
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
WW	30	61	1.72e-7	SMART
low complexity region	85	100	N/A	INTRINSIC
PTB	114	260	7.64e-37	SMART
PTB	286	420	4.07e-32	SMART
low complexity region	444	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036158
AA Change: Y156C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: Y156C

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	36	321	6.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050476
AA Change: Y156C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: Y156C

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115682

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719

Domain	Start	End	E-Value	Type
Blast:KISc	1	105	2e-10	BLAST
SCOP:d1bg2__	1	105	3e-9	SMART
low complexity region	120	130	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
coiled coil region	354	385	N/A	INTRINSIC
coiled coil region	433	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185899

SMART Domains

Protein: ENSMUSP00000140201
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:DUF4535	63	101	3.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186538
AA Change: Y156C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: Y156C

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,943,456 (GRCm39)		probably null	Het
Adat1	T	C	8: 112,709,236 (GRCm39)	K196E	possibly damaging	Het
Aire	T	C	10: 77,873,767 (GRCm39)	D314G	probably damaging	Het
Atp11a	C	T	8: 12,894,427 (GRCm39)	T674I	probably damaging	Het
Atp8b1	T	C	18: 64,688,186 (GRCm39)	D644G	probably damaging	Het
Bag4	A	G	8: 26,259,333 (GRCm39)	S289P	probably damaging	Het
Bcat1	G	T	6: 144,994,358 (GRCm39)	H46Q	probably benign	Het
Btg4	A	G	9: 51,029,307 (GRCm39)	N164S	probably damaging	Het
Ccz1	G	A	5: 143,951,626 (GRCm39)	A2V	probably benign	Het
Cd209g	T	C	8: 4,186,839 (GRCm39)	L128P	probably damaging	Het
Col4a2	T	A	8: 11,493,571 (GRCm39)	M1380K	probably benign	Het
Cpox	T	C	16: 58,494,812 (GRCm39)	V283A	probably benign	Het
Dnah10	A	T	5: 124,894,776 (GRCm39)	D3504V	probably benign	Het
Eml1	A	T	12: 108,503,625 (GRCm39)	I741F	probably benign	Het
Fam171a2	A	G	11: 102,335,002 (GRCm39)	V45A	possibly damaging	Het
Fem1a	A	G	17: 56,563,946 (GRCm39)	D13G	probably damaging	Het
Fkbp14	A	G	6: 54,570,003 (GRCm39)	I9T	probably benign	Het
Golt1b	G	A	6: 142,338,068 (GRCm39)	G13D	probably damaging	Het
Heatr5b	T	C	17: 79,070,455 (GRCm39)	N1653D	probably benign	Het
Hrg	A	G	16: 22,769,873 (GRCm39)	M1V	probably null	Het
Itgb2	T	A	10: 77,391,995 (GRCm39)	I356N	probably damaging	Het
Kcnb2	A	G	1: 15,383,064 (GRCm39)	E130G	probably damaging	Het
Kpna2	A	T	11: 106,882,884 (GRCm39)	F124Y	probably damaging	Het
Lyst	T	C	13: 13,812,060 (GRCm39)	I824T	probably damaging	Het
Meis2	T	C	2: 115,893,801 (GRCm39)	H38R	possibly damaging	Het
Mknk1	T	G	4: 115,735,191 (GRCm39)	I353S	probably damaging	Het
Mrc1	T	A	2: 14,242,955 (GRCm39)	I27N	probably damaging	Het
Mup4	T	C	4: 59,958,568 (GRCm39)	T111A	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Neb	T	G	2: 52,116,456 (GRCm39)	E994A		Het
Nlrc5	T	C	8: 95,203,745 (GRCm39)	M615T	possibly damaging	Het
Nup88	T	C	11: 70,852,441 (GRCm39)	E218G	possibly damaging	Het
Or10g3b	A	T	14: 52,587,420 (GRCm39)	F28I	probably benign	Het
Or4c114	A	G	2: 88,905,641 (GRCm39)		probably benign	Het
Parp11	A	G	6: 127,447,723 (GRCm39)	D19G	probably benign	Het
Parp2	A	T	14: 51,057,487 (GRCm39)	T429S	probably damaging	Het
Pcdhb6	G	A	18: 37,468,659 (GRCm39)	E527K	probably damaging	Het
Pde8a	A	G	7: 80,982,715 (GRCm39)	Y778C	probably damaging	Het
Pea15a	T	C	1: 172,028,150 (GRCm39)		probably null	Het
Plcd3	A	G	11: 102,967,683 (GRCm39)	Y420H	probably damaging	Het
Ppp1ca	C	A	19: 4,243,088 (GRCm39)	S85R	possibly damaging	Het
Pth	A	C	7: 112,985,450 (GRCm39)	I13S	probably benign	Het
Rbm27	A	G	18: 42,460,578 (GRCm39)	T842A	probably damaging	Het
Rcbtb2	T	A	14: 73,419,806 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,276,314 (GRCm39)	L323F	probably benign	Het
Ryr3	A	T	2: 112,475,590 (GRCm39)	Y4539*	probably null	Het
Scamp3	T	A	3: 89,088,525 (GRCm39)	F244I	probably damaging	Het
Sema4d	T	C	13: 51,877,658 (GRCm39)	D58G	probably benign	Het
Skor1	G	T	9: 63,052,664 (GRCm39)	A435E	probably damaging	Het
Spryd7	T	C	14: 61,777,607 (GRCm39)	T158A	possibly damaging	Het
Srgap3	A	C	6: 112,716,337 (GRCm39)	I621S	probably benign	Het
Tbc1d31	A	G	15: 57,815,066 (GRCm39)	E581G	probably damaging	Het
Tcf4	C	T	18: 69,776,054 (GRCm39)	T318I	probably damaging	Het
Usf3	C	T	16: 44,039,306 (GRCm39)	T1262M	probably damaging	Het
Vcam1	T	C	3: 115,914,704 (GRCm39)	D316G	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,362 (GRCm39)	E229V	possibly damaging	Het
Zfhx2	T	C	14: 55,304,120 (GRCm39)	E1288G	probably benign	Het

Other mutations in Slc35a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Slc35a4	APN	18	36,815,500 (GRCm39)	missense	probably damaging	0.99
R0980:Slc35a4	UTSW	18	36,815,834 (GRCm39)	missense	probably damaging	1.00
R1586:Slc35a4	UTSW	18	36,816,058 (GRCm39)	missense	probably benign
R1723:Slc35a4	UTSW	18	36,815,788 (GRCm39)	missense	possibly damaging	0.61
R3827:Slc35a4	UTSW	18	36,816,041 (GRCm39)	missense	probably damaging	0.99
R5180:Slc35a4	UTSW	18	36,815,688 (GRCm39)	missense	probably benign
R5732:Slc35a4	UTSW	18	36,815,394 (GRCm39)	missense	probably benign	0.05
R7101:Slc35a4	UTSW	18	36,814,591 (GRCm39)	missense	probably damaging	0.99
R7257:Slc35a4	UTSW	18	36,812,669 (GRCm39)	missense	unknown
R7402:Slc35a4	UTSW	18	36,813,570 (GRCm39)	missense	unknown
R8299:Slc35a4	UTSW	18	36,815,980 (GRCm39)	missense	possibly damaging	0.89
R9300:Slc35a4	UTSW	18	36,815,274 (GRCm39)	missense	probably damaging	1.00
R9441:Slc35a4	UTSW	18	36,816,111 (GRCm39)	missense	probably damaging	1.00
R9665:Slc35a4	UTSW	18	36,813,651 (GRCm39)	missense	probably benign
Z1088:Slc35a4	UTSW	18	36,816,146 (GRCm39)	makesense	probably null
Z1176:Slc35a4	UTSW	18	36,815,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCTATGGCGCCAACAAC -3'
(R):5'- GATCACCCCAAAAGTGTAGAGG -3'

Sequencing Primer
(F):5'- ACAACCTGGTGATTTATCTGCAGC -3'
(R):5'- CCCCAAAAGTGTAGAGGAAGAGGTTC -3'

Posted On

2019-10-24