Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:Slc35f4'

724529

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

4930550L21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R9615 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49535976-49763354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49556306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000073972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000123534] [ENSMUST00000138884] [ENSMUST00000146164]

AlphaFold

Q8BZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000074368
AA Change: V149A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: V149A

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	160	182	N/A	INTRINSIC
Pfam:SLC35F	216	435	7.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123534
AA Change: V149A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: V149A

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	160	182	N/A	INTRINSIC
transmembrane domain	217	234	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138884

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852

Domain	Start	End	E-Value	Type
Pfam:EmrE	18	143	1e-12	PFAM
Pfam:EamA	57	135	8.4e-9	PFAM
Pfam:DUF914	68	314	4.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146164
AA Change: V149A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Acat3	G	A	17: 13,147,502 (GRCm39)	Q172*	probably null	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
C3	A	T	17: 57,518,669 (GRCm39)	L1238Q	probably damaging	Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Commd9	T	C	2: 101,727,436 (GRCm39)	S77P	possibly damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Rtl1	G	A	12: 109,556,835 (GRCm39)	A1668V	possibly damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Samd4b	A	T	7: 28,106,714 (GRCm39)	I349K	probably damaging	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	probably damaging	Het

Other mutations in Slc35f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc35f4	APN	14	49,536,334 (GRCm39)	missense	probably benign	0.15
IGL01640:Slc35f4	APN	14	49,556,225 (GRCm39)	missense	probably damaging	0.99
IGL01942:Slc35f4	APN	14	49,762,962 (GRCm39)	splice site	probably benign
IGL01990:Slc35f4	APN	14	49,541,626 (GRCm39)	critical splice donor site	probably null
IGL02097:Slc35f4	APN	14	49,543,703 (GRCm39)	missense	probably damaging	1.00
IGL02803:Slc35f4	APN	14	49,541,714 (GRCm39)	missense	probably benign	0.00
R0005:Slc35f4	UTSW	14	49,559,943 (GRCm39)	splice site	probably benign
R0238:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0238:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0764:Slc35f4	UTSW	14	49,543,796 (GRCm39)	splice site	probably benign
R1884:Slc35f4	UTSW	14	49,551,091 (GRCm39)	missense	probably damaging	1.00
R1916:Slc35f4	UTSW	14	49,541,380 (GRCm39)	intron	probably benign
R2047:Slc35f4	UTSW	14	49,541,029 (GRCm39)	intron	probably benign
R2239:Slc35f4	UTSW	14	49,543,660 (GRCm39)	critical splice donor site	probably null
R2380:Slc35f4	UTSW	14	49,543,660 (GRCm39)	critical splice donor site	probably null
R4273:Slc35f4	UTSW	14	49,541,758 (GRCm39)	missense	possibly damaging	0.81
R4420:Slc35f4	UTSW	14	49,551,034 (GRCm39)	unclassified	probably benign
R4425:Slc35f4	UTSW	14	49,556,307 (GRCm39)	missense	possibly damaging	0.85
R5261:Slc35f4	UTSW	14	49,540,946 (GRCm39)	intron	probably benign
R5398:Slc35f4	UTSW	14	49,536,304 (GRCm39)	missense	probably damaging	1.00
R5402:Slc35f4	UTSW	14	49,556,331 (GRCm39)	missense	probably damaging	1.00
R6310:Slc35f4	UTSW	14	49,559,914 (GRCm39)	missense	probably damaging	1.00
R6596:Slc35f4	UTSW	14	49,763,057 (GRCm39)	missense	probably damaging	1.00
R6729:Slc35f4	UTSW	14	49,556,417 (GRCm39)	missense	probably benign	0.16
R6864:Slc35f4	UTSW	14	49,556,310 (GRCm39)	missense	possibly damaging	0.55
R7427:Slc35f4	UTSW	14	49,536,355 (GRCm39)	missense	probably damaging	0.99
R7428:Slc35f4	UTSW	14	49,536,355 (GRCm39)	missense	probably damaging	0.99
R7559:Slc35f4	UTSW	14	49,541,732 (GRCm39)	missense	probably benign	0.03
R7596:Slc35f4	UTSW	14	49,543,666 (GRCm39)	missense	probably damaging	1.00
R7722:Slc35f4	UTSW	14	49,543,731 (GRCm39)	missense	probably benign	0.22
R8263:Slc35f4	UTSW	14	49,551,084 (GRCm39)	missense	probably damaging	1.00
R8525:Slc35f4	UTSW	14	49,541,681 (GRCm39)	missense	possibly damaging	0.56
R9198:Slc35f4	UTSW	14	49,556,377 (GRCm39)	missense	unknown
R9751:Slc35f4	UTSW	14	49,536,291 (GRCm39)	missense	possibly damaging	0.49
R9772:Slc35f4	UTSW	14	49,551,175 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCTGAGGTAAGGGACAC -3'
(R):5'- GCTGACACATCTGACTGCTC -3'

Sequencing Primer
(F):5'- TAAGGGGGCTCATCCTGCTTC -3'
(R):5'- GACACATCTGACTGCTCCTCCAC -3'

Posted On

2022-09-12