Mutagenetix > Incidental Mutation

Incidental Mutation 'R4255:Sdf4'

321774

Institutional Source

Beutler Lab

Gene Symbol

Sdf4

Ensembl Gene

ENSMUSG00000029076

Gene Name

stromal cell derived factor 4

Synonyms

Cab45

MMRRC Submission

041068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R4255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156077329-156098067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156085214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 183 (H183R)

Ref Sequence

ENSEMBL: ENSMUSP00000101204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000097734] [ENSMUST00000105578] [ENSMUST00000105579]

AlphaFold

Q61112

Predicted Effect

probably benign
Transcript: ENSMUST00000050078
AA Change: H183R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: H183R

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: ENSMUST00000097734
AA Change: H183R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
AA Change: H183R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105578
AA Change: H183R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: H183R

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: H183R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: H183R

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: ENSMUST00000124872

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

93% (50/54)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,136,949 (GRCm39)	I171V	probably benign	Het
Actc1	T	C	2: 113,879,697 (GRCm39)	N254S	probably benign	Het
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Ankrd7	T	A	6: 18,869,880 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,750,916 (GRCm39)		probably benign	Het
Brca2	A	G	5: 150,464,634 (GRCm39)	E1466G	possibly damaging	Het
Dagla	G	A	19: 10,234,316 (GRCm39)	R332*	probably null	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dnhd1	T	A	7: 105,362,205 (GRCm39)	L3689M	probably damaging	Het
Epn1	T	A	7: 5,100,637 (GRCm39)	L530Q	probably damaging	Het
Fgf17	C	A	14: 70,879,162 (GRCm39)		probably null	Het
Fgfr4	G	A	13: 55,314,064 (GRCm39)	V593M	probably damaging	Het
Fmo4	A	G	1: 162,621,895 (GRCm39)	C439R	probably benign	Het
Fndc3b	T	C	3: 27,555,556 (GRCm39)	K333E	possibly damaging	Het
Gpc6	A	G	14: 118,188,553 (GRCm39)	T396A	probably benign	Het
Igkv3-2	T	A	6: 70,676,045 (GRCm39)	V118D	probably benign	Het
Mtbp	C	A	15: 55,484,081 (GRCm39)	S470R	possibly damaging	Het
Myh8	A	G	11: 67,190,560 (GRCm39)	D1295G	probably benign	Het
Myo1h	T	C	5: 114,468,198 (GRCm39)	I331T	possibly damaging	Het
Myo7a	T	G	7: 97,721,171 (GRCm39)	M1265L	probably damaging	Het
Or13a18	C	A	7: 140,190,500 (GRCm39)	Y132*	probably null	Het
Or2ak7	A	T	11: 58,574,791 (GRCm39)	I31F	probably damaging	Het
Or2o1	G	A	11: 49,051,262 (GRCm39)	W140*	probably null	Het
Pak1ip1	A	G	13: 41,164,632 (GRCm39)		probably benign	Het
Pcdha11	A	G	18: 37,145,843 (GRCm39)	T645A	probably benign	Het
Peg12	A	G	7: 62,113,479 (GRCm39)	I206T	possibly damaging	Het
Pkhd1	A	G	1: 20,664,158 (GRCm39)	V140A	probably damaging	Het
Pramel29	T	A	4: 143,934,054 (GRCm39)	D351V	possibly damaging	Het
Prrc2c	C	A	1: 162,533,895 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,082,241 (GRCm39)	E70G	probably benign	Het
Rabl6	C	T	2: 25,474,791 (GRCm39)	E640K	possibly damaging	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a9	C	T	5: 137,319,694 (GRCm39)	R607H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc4a10	A	G	2: 62,112,280 (GRCm39)	N657S	probably benign	Het
Spata31d1c	C	G	13: 65,183,502 (GRCm39)	S348*	probably null	Het
Spata31d1c	T	C	13: 65,183,531 (GRCm39)	F358L	probably benign	Het
Srbd1	A	T	17: 86,410,350 (GRCm39)	S527R	possibly damaging	Het
Stag3	T	C	5: 138,289,143 (GRCm39)	V243A	probably damaging	Het
Tefm	A	T	11: 80,031,075 (GRCm39)	S54T	probably damaging	Het
Terf1	T	C	1: 15,875,903 (GRCm39)	M1T	probably null	Het
Thsd7b	G	A	1: 129,688,024 (GRCm39)	S645N	possibly damaging	Het
Trmt13	G	T	3: 116,376,337 (GRCm39)	S285*	probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ush2a	C	T	1: 188,492,040 (GRCm39)	R3110*	probably null	Het
Vnn3	T	C	10: 23,741,720 (GRCm39)	Y342H	probably benign	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
IGL02283:Sdf4	APN	4	156,093,293 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGTGATTGCCTGTAGCTC -3'
(R):5'- CTTTTGTGACTCAAGGCCTTG -3'

Sequencing Primer
(F):5'- CTCAGGATTTCTAGCAGGTGTCC -3'
(R):5'- TTGTGACTCAAGGCCTTGACAAAG -3'

Posted On

2015-06-20