Mutagenetix > Incidental Mutation

Incidental Mutation 'R9757:Sdf2l1'

732814

Institutional Source

Beutler Lab

Gene Symbol

Sdf2l1

Ensembl Gene

ENSMUSG00000022769

Gene Name

stromal cell-derived factor 2-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16948002-16950247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16948398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 213 (D213E)

Ref Sequence

ENSEMBL: ENSMUSP00000023453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023453]

AlphaFold

Q9ESP1

Predicted Effect

probably benign
Transcript: ENSMUST00000023453
AA Change: D213E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023453
Gene: ENSMUSG00000022769
AA Change: D213E

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
MIR	33	87	3.58e-10	SMART
MIR	95	150	1.42e-13	SMART
MIR	151	205	6.2e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,613,086 (GRCm39)	V105A	probably benign	Het
Agrn	C	A	4: 156,261,235 (GRCm39)	V621L	probably benign	Het
Anapc1	A	G	2: 128,517,676 (GRCm39)	S323P	probably damaging	Het
Anxa6	T	A	11: 54,885,182 (GRCm39)	K456*	probably null	Het
C7	G	T	15: 5,075,134 (GRCm39)	T186K	probably damaging	Het
Cacna1b	T	C	2: 24,609,113 (GRCm39)	E396G	probably damaging	Het
Ccdc191	C	T	16: 43,762,170 (GRCm39)	T20I		Het
Ces1b	G	T	8: 93,806,501 (GRCm39)	P15Q	probably benign	Het
Dnah14	G	T	1: 181,513,349 (GRCm39)	A1901S	probably benign	Het
Dock3	T	C	9: 106,901,035 (GRCm39)	H310R	possibly damaging	Het
Eif2ak4	T	G	2: 118,269,398 (GRCm39)	S23R	probably benign	Het
Gli2	A	G	1: 118,773,652 (GRCm39)	C485R	probably damaging	Het
Gm17093	T	A	14: 44,758,990 (GRCm39)	W171R		Het
Ing2	G	A	8: 48,128,075 (GRCm39)		probably benign	Het
Itpkb	T	C	1: 180,160,372 (GRCm39)	I166T	probably benign	Het
Kcnj8	T	A	6: 142,515,805 (GRCm39)	I101F	probably benign	Het
Krtap6-2	C	T	16: 89,216,958 (GRCm39)	C3Y	unknown	Het
Lep	A	G	6: 29,069,083 (GRCm39)	I45V	probably benign	Het
Lrrk2	A	T	15: 91,695,229 (GRCm39)	I2355L	probably benign	Het
Mettl3	C	A	14: 52,537,361 (GRCm39)	A174S	probably benign	Het
Mmp23	T	C	4: 155,735,515 (GRCm39)	N317S	probably damaging	Het
Mybpc1	A	T	10: 88,372,257 (GRCm39)	V777E	probably damaging	Het
Nlrp9b	T	A	7: 19,782,617 (GRCm39)	C844S	probably damaging	Het
Obscn	T	C	11: 58,892,338 (GRCm39)	E6823G	probably benign	Het
Or6y1	A	T	1: 174,276,866 (GRCm39)	I226F	probably damaging	Het
Pcdhb1	A	T	18: 37,400,302 (GRCm39)	Q751L	probably benign	Het
Pdgfrl	T	A	8: 41,379,454 (GRCm39)	L16Q	possibly damaging	Het
Pdzph1	A	C	17: 59,281,898 (GRCm39)	L128*	probably null	Het
Pramel24	A	G	4: 143,454,992 (GRCm39)	D430G	probably benign	Het
Prr36	A	T	8: 4,260,998 (GRCm39)	S940T	probably damaging	Het
Rad54l2	A	T	9: 106,595,120 (GRCm39)	I279N	probably damaging	Het
Rasgrp3	A	T	17: 75,807,719 (GRCm39)	T259S	probably damaging	Het
Rrn3	T	A	16: 13,628,433 (GRCm39)	I538N	probably damaging	Het
Sorcs3	T	C	19: 48,711,363 (GRCm39)	Y643H	probably damaging	Het
Sval2	G	T	6: 41,838,774 (GRCm39)	C4F	possibly damaging	Het
Taldo1	A	G	7: 140,980,263 (GRCm39)	E131G	probably benign	Het
Tas2r130	T	C	6: 131,607,296 (GRCm39)	I166M	probably benign	Het
Tmem178	A	G	17: 81,308,289 (GRCm39)	Y228C	probably damaging	Het
Ttn	A	T	2: 76,612,423 (GRCm39)	L17188*	probably null	Het
Unc45b	A	G	11: 82,810,558 (GRCm39)	K273E	probably damaging	Het
Usp32	A	C	11: 84,968,155 (GRCm39)	Y169*	probably null	Het
Vmn2r9	A	T	5: 108,995,908 (GRCm39)	Y247N	possibly damaging	Het
Zkscan2	A	T	7: 123,079,310 (GRCm39)	C882*	probably null	Het

Other mutations in Sdf2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Sdf2l1	APN	16	16,950,014 (GRCm39)	missense	probably damaging	1.00
R5736:Sdf2l1	UTSW	16	16,949,571 (GRCm39)	missense	probably damaging	1.00
R6826:Sdf2l1	UTSW	16	16,950,158 (GRCm39)	missense	probably benign	0.09
R6827:Sdf2l1	UTSW	16	16,950,158 (GRCm39)	missense	probably benign	0.09
R6828:Sdf2l1	UTSW	16	16,950,158 (GRCm39)	missense	probably benign	0.09
R6829:Sdf2l1	UTSW	16	16,950,158 (GRCm39)	missense	probably benign	0.09
R9013:Sdf2l1	UTSW	16	16,948,630 (GRCm39)	missense	possibly damaging	0.78
R9323:Sdf2l1	UTSW	16	16,949,498 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATATGGCTGGCACCTTCAG -3'
(R):5'- GTGGACAGTCCGATGTTCTG -3'

Sequencing Primer
(F):5'- AGATCTTCCCCAGGGTTACAG -3'
(R):5'- AGTCCGATGTTCTGGGCAAC -3'

Posted On

2022-11-14