Mutagenetix > Incidental Mutation

Incidental Mutation 'R6729:Slc35f4'

529986

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R6729 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49298519-49526046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49318960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 112 (N112T)

Ref Sequence

ENSEMBL: ENSMUSP00000154089 (fasta)

Gene Model

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

AlphaFold

Q8BZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000074368
AA Change: N112T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: N112T

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

probably benign
Transcript: ENSMUST00000123534
AA Change: N112T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: N112T

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

noncoding transcript
Transcript: ENSMUST00000135254

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: N112T

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,188,601		probably null	Het
Acad12	A	T	5: 121,607,935	H230Q	probably damaging	Het
AI182371	G	T	2: 35,084,705		probably benign	Het
Ank3	T	C	10: 69,808,925	V73A	probably damaging	Het
Apbb1	A	T	7: 105,565,381	M28K	probably damaging	Het
Atp6v1f	A	G	6: 29,467,965	D50G	probably benign	Het
Cdkal1	G	A	13: 29,474,695	T356M	probably damaging	Het
Clca1	A	G	3: 145,005,966	I756T	probably damaging	Het
Cyp17a1	A	G	19: 46,670,581	V207A	probably benign	Het
Dnah7c	A	G	1: 46,672,521	E2636G	possibly damaging	Het
Gm13090	A	T	4: 151,089,628		probably benign	Het
Nceh1	T	A	3: 27,241,271	L227*	probably null	Het
Nedd9	A	G	13: 41,315,802	M625T	probably damaging	Het
Olfr1426	T	A	19: 12,088,496	M99L	probably benign	Het
Olfr148	A	T	9: 39,613,773	M69L	probably benign	Het
Olfr464	G	A	11: 87,914,850	Q19*	probably null	Het
Olfr920	A	G	9: 38,755,828	I47V	probably benign	Het
Pcsk4	T	C	10: 80,325,101	N297S	probably damaging	Het
Psg21	T	A	7: 18,652,591	I157F	probably damaging	Het
Rabep2	T	C	7: 126,440,197	V294A	probably benign	Het
Rsph1	A	G	17: 31,277,252	S2P	unknown	Het
Sacs	A	G	14: 61,210,518	K3338E	probably damaging	Het
Slc43a3	T	C	2: 84,938,285	F83L	probably damaging	Het
Slc6a15	T	C	10: 103,393,914	V154A	probably damaging	Het
Synj2	T	A	17: 5,986,014	M1K	probably null	Het
Tcp1	G	A	17: 12,923,253	R378Q	probably damaging	Het
Tead2	A	G	7: 45,217,234	T6A	probably benign	Het
Tpte	G	T	8: 22,355,475	V514L	probably damaging	Het
Trpm6	A	G	19: 18,830,297	N1069D	probably damaging	Het
Uhrf1bp1l	T	A	10: 89,805,684	S906T	probably benign	Het
Vmn2r105	C	A	17: 20,208,343	G824C	probably damaging	Het
Yod1	G	A	1: 130,717,538	G19S	probably damaging	Het
Zfp934	A	T	13: 62,492,932	N2K	probably damaging	Het

Other mutations in Slc35f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc35f4	APN	14	49298877	missense	probably benign	0.15
IGL01640:Slc35f4	APN	14	49318768	missense	probably damaging	0.99
IGL01942:Slc35f4	APN	14	49525505	splice site	probably benign
IGL01990:Slc35f4	APN	14	49304169	critical splice donor site	probably null
IGL02097:Slc35f4	APN	14	49306246	missense	probably damaging	1.00
IGL02803:Slc35f4	APN	14	49304257	missense	probably benign	0.00
R0005:Slc35f4	UTSW	14	49322486	splice site	probably benign
R0238:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0238:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49304256	missense	possibly damaging	0.78
R0764:Slc35f4	UTSW	14	49306339	splice site	probably benign
R1884:Slc35f4	UTSW	14	49313634	missense	probably damaging	1.00
R1916:Slc35f4	UTSW	14	49303923	intron	probably benign
R2047:Slc35f4	UTSW	14	49303572	intron	probably benign
R2239:Slc35f4	UTSW	14	49306203	critical splice donor site	probably null
R2380:Slc35f4	UTSW	14	49306203	critical splice donor site	probably null
R4273:Slc35f4	UTSW	14	49304301	missense	possibly damaging	0.81
R4420:Slc35f4	UTSW	14	49313577	unclassified	probably benign
R4425:Slc35f4	UTSW	14	49318850	missense	possibly damaging	0.85
R5261:Slc35f4	UTSW	14	49303489	intron	probably benign
R5398:Slc35f4	UTSW	14	49298847	missense	probably damaging	1.00
R5402:Slc35f4	UTSW	14	49318874	missense	probably damaging	1.00
R6310:Slc35f4	UTSW	14	49322457	missense	probably damaging	1.00
R6596:Slc35f4	UTSW	14	49525600	missense	probably damaging	1.00
R6864:Slc35f4	UTSW	14	49318853	missense	possibly damaging	0.55
R7427:Slc35f4	UTSW	14	49298898	missense	probably damaging	0.99
R7428:Slc35f4	UTSW	14	49298898	missense	probably damaging	0.99
R7559:Slc35f4	UTSW	14	49304275	missense	probably benign	0.03
R7596:Slc35f4	UTSW	14	49306209	missense	probably damaging	1.00
R7722:Slc35f4	UTSW	14	49306274	missense	probably benign	0.22
R8263:Slc35f4	UTSW	14	49313627	missense	probably damaging	1.00
R8525:Slc35f4	UTSW	14	49304224	missense	possibly damaging	0.56
R9198:Slc35f4	UTSW	14	49318920	missense	unknown
R9615:Slc35f4	UTSW	14	49318849	missense	probably benign	0.00
R9751:Slc35f4	UTSW	14	49298834	missense	possibly damaging	0.49
R9772:Slc35f4	UTSW	14	49313718	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAGATGGCCGGAATAAT -3'
(R):5'- GATCATTGTTCTCTTCTGGTGCTAA -3'

Sequencing Primer
(F):5'- CTAGATGGCCGGAATAATAGACTG -3'
(R):5'- ACACATCTGACTGCTCCT -3'

Posted On

2018-08-01