Mutagenetix > Incidental Mutation

Incidental Mutation 'R7619:Sdf2'

589066

Institutional Source

Beutler Lab

Gene Symbol

Sdf2

Ensembl Gene

ENSMUSG00000002064

Gene Name

stromal cell derived factor 2

Synonyms

MMRRC Submission

045686-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R7619 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78136817-78146310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78141989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 108 (G108D)

Ref Sequence

ENSEMBL: ENSMUSP00000002133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002133]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002133
AA Change: G108D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002133
Gene: ENSMUSG00000002064
AA Change: G108D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
MIR	29	83	2.24e-11	SMART
MIR	91	146	5.47e-15	SMART
MIR	148	201	8.36e-11	SMART

Meta Mutation Damage Score

0.4582

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	G	16: 14,263,283 (GRCm39)	P748A	probably damaging	Het
Abcc12	A	G	8: 87,293,182 (GRCm39)	V2A	probably damaging	Het
Anxa3	T	C	5: 96,978,263 (GRCm39)	Y216H	probably damaging	Het
Arpc1a	C	A	5: 145,041,668 (GRCm39)	T317K	probably benign	Het
C330018D20Rik	A	G	18: 57,095,483 (GRCm39)	L34S	probably damaging	Het
C5ar1	A	G	7: 15,982,504 (GRCm39)	F172S	probably damaging	Het
Ccl27a	G	A	4: 41,774,166 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,752,342 (GRCm39)	N480D		Het
Cttnbp2nl	A	G	3: 104,912,076 (GRCm39)	S603P	possibly damaging	Het
Dmc1	A	T	15: 79,480,443 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,323,475 (GRCm39)	I626V	probably benign	Het
Dnm2	A	G	9: 21,416,930 (GRCm39)	N821S	probably benign	Het
Dst	T	C	1: 34,238,509 (GRCm39)	L1723S	probably benign	Het
Ep300	T	A	15: 81,492,399 (GRCm39)	M245K	unknown	Het
Fam227a	T	C	15: 79,501,967 (GRCm39)	T536A	probably benign	Het
Fbn2	G	T	18: 58,213,299 (GRCm39)	R963S	possibly damaging	Het
Fbxo42	T	G	4: 140,927,673 (GRCm39)	I651S	possibly damaging	Het
Ggnbp1	T	A	17: 27,237,105 (GRCm39)	M1K	probably null	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Grid2	T	C	6: 63,908,085 (GRCm39)	F242L	possibly damaging	Het
Igf2r	A	G	17: 12,917,160 (GRCm39)	V1580A	possibly damaging	Het
Marchf4	A	G	1: 72,574,148 (GRCm39)	V50A	possibly damaging	Het
Mettl15	T	A	2: 108,923,220 (GRCm39)	R401*	probably null	Het
Mki67	A	T	7: 135,301,106 (GRCm39)	H1309Q	probably benign	Het
Mtor	T	C	4: 148,547,252 (GRCm39)	Y412H	probably damaging	Het
Myef2	C	T	2: 124,965,396 (GRCm39)	G15S	probably benign	Het
Napepld	A	T	5: 21,880,846 (GRCm39)	I183N	probably damaging	Het
Nbeal2	T	C	9: 110,454,886 (GRCm39)	E2644G	probably benign	Het
Neb	C	T	2: 52,186,438 (GRCm39)	R878Q	possibly damaging	Het
Or52l1	A	G	7: 104,829,956 (GRCm39)	V203A	probably damaging	Het
Otol1	A	T	3: 69,935,202 (GRCm39)	H398L	probably damaging	Het
Pcdhga9	A	G	18: 37,871,805 (GRCm39)	S545G	probably damaging	Het
Pramel19	T	G	4: 101,798,497 (GRCm39)	F156C	probably benign	Het
Rhbdl1	T	C	17: 26,055,991 (GRCm39)	S4G	possibly damaging	Het
Ric1	A	G	19: 29,557,175 (GRCm39)	E420G	probably benign	Het
Sap30l	G	A	11: 57,698,887 (GRCm39)	R120H	probably damaging	Het
Scn2a	T	C	2: 65,546,247 (GRCm39)	F937L	probably damaging	Het
Skint5	T	C	4: 113,381,305 (GRCm39)	S1263G	unknown	Het
Stab1	A	G	14: 30,867,194 (GRCm39)	I1722T	probably benign	Het
Syn3	A	G	10: 85,893,428 (GRCm39)	S472P	unknown	Het
Tcp11l2	T	C	10: 84,430,622 (GRCm39)	F249S	probably damaging	Het
Thoc7	T	A	14: 13,961,819 (GRCm38)		probably null	Het
Tvp23a	C	A	16: 10,246,602 (GRCm39)	C61F	probably damaging	Het
Ubfd1	G	A	7: 121,666,606 (GRCm39)	G34D	probably benign	Het
Vmn1r160	A	T	7: 22,570,967 (GRCm39)	T107S	probably damaging	Het
Vmn2r108	T	A	17: 20,692,457 (GRCm39)	K133I	probably benign	Het
Vmn2r15	A	T	5: 109,436,190 (GRCm39)		probably null	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Zfp354c	C	T	11: 50,708,635 (GRCm39)		probably null	Het
Zfp560	G	T	9: 20,260,206 (GRCm39)	Q219K	probably benign	Het
Zfp691	C	T	4: 119,028,181 (GRCm39)	G17E	probably damaging	Het
Zfp930	T	A	8: 69,661,810 (GRCm39)	M1K	probably null	Het
Zkscan14	A	G	5: 145,132,169 (GRCm39)	F454S	probably benign	Het

Other mutations in Sdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Sdf2	APN	11	78,141,844 (GRCm39)	missense	probably damaging	1.00
R1591:Sdf2	UTSW	11	78,145,819 (GRCm39)	missense	probably damaging	0.96
R2919:Sdf2	UTSW	11	78,145,680 (GRCm39)	missense	probably damaging	0.97
R2920:Sdf2	UTSW	11	78,145,680 (GRCm39)	missense	probably damaging	0.97
R4367:Sdf2	UTSW	11	78,141,863 (GRCm39)	missense	probably damaging	1.00
R4371:Sdf2	UTSW	11	78,141,863 (GRCm39)	missense	probably damaging	1.00
R5970:Sdf2	UTSW	11	78,136,906 (GRCm39)	missense	probably benign
R7130:Sdf2	UTSW	11	78,136,823 (GRCm39)	start codon destroyed	probably null
R8868:Sdf2	UTSW	11	78,136,970 (GRCm39)	missense	probably damaging	1.00
R8955:Sdf2	UTSW	11	78,145,763 (GRCm39)	missense	probably benign	0.00
R9209:Sdf2	UTSW	11	78,136,858 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACAAACAGCTTGTCAGGGC -3'
(R):5'- AGGGTTAATGTGCTCCTTATAGC -3'

Sequencing Primer
(F):5'- GTTGGTCATCCCCAGACTG -3'
(R):5'- GCTCCTTATAGCAACGCATATAC -3'

Posted On

2019-10-24