Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02283:Sdf4'

289905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdf4

Ensembl Gene

ENSMUSG00000029076

Gene Name

stromal cell derived factor 4

Synonyms

Cab45

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

156077329-156098067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156093293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 208 (N208K)

Ref Sequence

ENSEMBL: ENSMUSP00000101204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000105578] [ENSMUST00000105579]

AlphaFold

Q61112

Predicted Effect

probably benign
Transcript: ENSMUST00000050078
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: N208K

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC
EFh	101	129	7.93e-1	SMART
EFh	140	168	3.34e1	SMART
EFh	236	264	3.48e-1	SMART
EFh	284	309	4.08e1	SMART
EFh	317	345	2.9e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105578
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: N208K

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC
EFh	101	129	7.93e-1	SMART
EFh	140	168	3.34e1	SMART
EFh	236	264	3.48e-1	SMART
EFh	284	309	4.08e1	SMART
EFh	317	345	2.9e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105579
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: N208K

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC
EFh	101	129	7.93e-1	SMART
EFh	140	168	3.34e1	SMART
EFh	236	264	3.48e-1	SMART
EFh	284	309	4.08e1	SMART
EFh	317	345	2.9e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149971

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the CREC family. The encoded protein contains multiple calcium-binding EF-hand motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,331,759 (GRCm39)	Y682C	probably benign	Het
Ank1	G	A	8: 23,609,450 (GRCm39)		probably null	Het
Arhgap1	A	G	2: 91,501,121 (GRCm39)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,254,248 (GRCm39)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,906,935 (GRCm39)	C1428S	probably benign	Het
Col18a1	T	C	10: 76,948,943 (GRCm39)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,731,251 (GRCm39)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm39)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,802,671 (GRCm39)	M1095T	probably damaging	Het
Gypa	G	A	8: 81,220,721 (GRCm39)		probably benign	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Macf1	T	C	4: 123,365,168 (GRCm39)	T1633A	probably benign	Het
Mars2	T	C	1: 55,277,933 (GRCm39)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,778,956 (GRCm39)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,613,265 (GRCm39)	D846G	probably benign	Het
Or2ak6	A	T	11: 58,593,102 (GRCm39)	T192S	probably damaging	Het
Or2y1b	A	G	11: 49,209,162 (GRCm39)	D263G	probably benign	Het
Or4d11	A	G	19: 12,013,219 (GRCm39)	S296P	possibly damaging	Het
Or7a41	T	C	10: 78,871,379 (GRCm39)	S250P	probably damaging	Het
Rprd2	A	T	3: 95,672,815 (GRCm39)	S863T	probably damaging	Het
Sftpd	A	T	14: 40,894,423 (GRCm39)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,956,718 (GRCm39)	D321G	probably benign	Het
Slc45a2	T	A	15: 11,001,268 (GRCm39)	N122K	probably damaging	Het
Slk	T	A	19: 47,630,432 (GRCm39)	F1170Y	probably damaging	Het
Spata7	A	C	12: 98,624,517 (GRCm39)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,694,356 (GRCm39)	L497S	probably damaging	Het

Other mutations in Sdf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Sdf4	APN	4	156,093,763 (GRCm39)	missense	probably benign	0.00
IGL02666:Sdf4	APN	4	156,093,281 (GRCm39)	nonsense	probably null
IGL02893:Sdf4	APN	4	156,080,985 (GRCm39)	splice site	probably benign
IGL03246:Sdf4	APN	4	156,085,154 (GRCm39)	missense	probably benign	0.01
soap	UTSW	4	156,086,916 (GRCm39)	splice site	probably null
R1648:Sdf4	UTSW	4	156,083,886 (GRCm39)	missense	probably damaging	0.96
R1879:Sdf4	UTSW	4	156,094,304 (GRCm39)	missense	probably damaging	1.00
R1893:Sdf4	UTSW	4	156,085,205 (GRCm39)	missense	probably benign	0.22
R3793:Sdf4	UTSW	4	156,086,916 (GRCm39)	splice site	probably null
R4255:Sdf4	UTSW	4	156,085,214 (GRCm39)	missense	probably benign	0.00
R4436:Sdf4	UTSW	4	156,093,404 (GRCm39)	critical splice donor site	probably null
R4801:Sdf4	UTSW	4	156,085,178 (GRCm39)	missense	possibly damaging	0.66
R4802:Sdf4	UTSW	4	156,085,178 (GRCm39)	missense	possibly damaging	0.66
R4868:Sdf4	UTSW	4	156,093,642 (GRCm39)	missense	probably damaging	1.00
R5752:Sdf4	UTSW	4	156,080,761 (GRCm39)	missense	probably damaging	1.00
R5813:Sdf4	UTSW	4	156,083,856 (GRCm39)	missense	probably benign	0.03
R7501:Sdf4	UTSW	4	156,080,977 (GRCm39)	critical splice donor site	probably null
R8109:Sdf4	UTSW	4	156,094,295 (GRCm39)	missense	probably damaging	0.99
R8167:Sdf4	UTSW	4	156,093,379 (GRCm39)	missense	possibly damaging	0.95
R8867:Sdf4	UTSW	4	156,093,759 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16