Mutagenetix > Incidental Mutation

Incidental Mutation 'R6829:Sdf2l1'

534317

Institutional Source

Beutler Lab

Gene Symbol

Sdf2l1

Ensembl Gene

ENSMUSG00000022769

Gene Name

stromal cell-derived factor 2-like 1

Synonyms

MMRRC Submission

044939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6829 (G1)

Quality Score

92.0077

Status

Validated

Chromosome

Chromosomal Location

16948002-16950247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 16950158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 6 (R6P)

Ref Sequence

ENSEMBL: ENSMUSP00000023453 (fasta)

Gene Model

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

AlphaFold

Q9ESP1

Predicted Effect

probably benign
Transcript: ENSMUST00000023453
AA Change: R6P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023453
Gene: ENSMUSG00000022769
AA Change: R6P

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,265,446 (GRCm39)		probably null	Het
Adamts5	A	T	16: 85,666,959 (GRCm39)	M511K	possibly damaging	Het
Adcy9	A	G	16: 4,125,018 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,463 (GRCm39)	E113G	possibly damaging	Het
Ccdc198	A	G	14: 49,464,025 (GRCm39)	*295Q	probably null	Het
Dcaf1	T	A	9: 106,715,803 (GRCm39)	S307T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Elac2	A	G	11: 64,880,190 (GRCm39)	E111G	probably benign	Het
Fbxw4	A	G	19: 45,624,813 (GRCm39)	F57S	possibly damaging	Het
Gm17655	T	G	5: 110,194,792 (GRCm39)	H330P	probably damaging	Het
Gm2a	T	C	11: 54,994,576 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,787,413 (GRCm39)	D600E	possibly damaging	Het
Gsg1l2	T	C	11: 67,665,684 (GRCm39)	I84T	possibly damaging	Het
Igsf9	A	G	1: 172,323,241 (GRCm39)	R652G	probably benign	Het
Il17rd	C	T	14: 26,809,379 (GRCm39)	R112*	probably null	Het
Jph1	C	A	1: 17,074,647 (GRCm39)	R457L	probably damaging	Het
Khdrbs3	T	C	15: 68,964,810 (GRCm39)	V249A	possibly damaging	Het
Mocs2	A	G	13: 114,955,980 (GRCm39)	S43G	probably benign	Het
Myom2	T	A	8: 15,172,643 (GRCm39)	L1190*	probably null	Het
Or2w1	T	A	13: 21,317,023 (GRCm39)	I26N	possibly damaging	Het
Or4f62	G	C	2: 111,986,139 (GRCm39)		probably benign	Het
Or5ac16	A	G	16: 59,021,898 (GRCm39)	V297A	probably damaging	Het
Or8k33	A	T	2: 86,383,613 (GRCm39)	L285*	probably null	Het
Pgc	A	T	17: 48,043,706 (GRCm39)		probably null	Het
Plch1	T	G	3: 63,604,939 (GRCm39)	D1655A	probably damaging	Het
Pnliprp2	G	A	19: 58,748,305 (GRCm39)	G29R	probably benign	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Rb1cc1	T	C	1: 6,319,488 (GRCm39)	I969T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sema7a	A	G	9: 57,868,181 (GRCm39)	E538G	probably benign	Het
Slc2a2	C	T	3: 28,781,590 (GRCm39)	Q513*	probably null	Het
Slc4a8	A	G	15: 100,698,419 (GRCm39)	Y636C	probably damaging	Het
Tasor	A	G	14: 27,164,438 (GRCm39)	D248G	possibly damaging	Het
Trpm5	A	G	7: 142,623,166 (GRCm39)		probably benign	Het
Vmn1r14	T	C	6: 57,210,536 (GRCm39)	L38P	probably benign	Het
Washc4	T	C	10: 83,396,380 (GRCm39)	S397P	probably damaging	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zan	A	G	5: 137,414,540 (GRCm39)		probably benign	Het
Zfhx3	C	T	8: 109,676,915 (GRCm39)	T2655M	probably damaging	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
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
R9757:Sdf2l1	UTSW	16	16,948,398 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACCAGATCCGTATTTGATGTC -3'
(R):5'- AGTTAAAATCCTCCTGGTGTCTCC -3'

Sequencing Primer
(F):5'- ATGTCGTGTGAGTGCAGCC -3'
(R):5'- TACCTCCTTGGAAGCTGGG -3'

Posted On

2018-09-12