Mutagenetix > Incidental Mutation

Incidental Mutation 'R7612:Slfn2'

588677

Institutional Source

Beutler Lab

Gene Symbol

Slfn2

Ensembl Gene

ENSMUSG00000072620

Gene Name

schlafen 2

Synonyms

Shlf2

MMRRC Submission

045680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R7612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82955938-82961504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82961089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 356 (E356G)

Ref Sequence

ENSEMBL: ENSMUSP00000035562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038038]

AlphaFold

Q9Z0I6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038038
AA Change: E356G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035562
Gene: ENSMUSG00000072620
AA Change: E356G

Domain	Start	End	E-Value	Type
low complexity region	162	172	N/A	INTRINSIC
Pfam:AlbA_2	231	365	4.5e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit increased susceptibility to bacterial and viral infections, reduced T cell numbers, decreased T cell proliferation, and increased apoptosis of activated T cells. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Chemically induced(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,496 (GRCm39)	Y181*	probably null	Het
Adgrf2	T	G	17: 43,025,271 (GRCm39)	K71T	possibly damaging	Het
Brca2	T	A	5: 150,464,076 (GRCm39)	M1280K	probably benign	Het
Card14	T	C	11: 119,224,405 (GRCm39)	S541P	possibly damaging	Het
Cd19	G	T	7: 126,013,496 (GRCm39)	Q98K	possibly damaging	Het
Ceacam5	T	A	7: 17,493,341 (GRCm39)	I788N	possibly damaging	Het
Cpne2	A	T	8: 95,284,048 (GRCm39)	I290L	probably benign	Het
Cpsf1	C	T	15: 76,481,209 (GRCm39)	V1216I	probably benign	Het
Csad	G	A	15: 102,097,357 (GRCm39)		probably benign	Het
Depdc7	T	A	2: 104,560,853 (GRCm39)	Q47L	probably benign	Het
Dnajc6	T	A	4: 101,455,123 (GRCm39)	S105T	probably benign	Het
Dsg4	C	A	18: 20,604,047 (GRCm39)	P838Q	probably damaging	Het
Efcab3	T	A	11: 104,999,647 (GRCm39)	Y179N	possibly damaging	Het
Egfr	A	T	11: 16,809,025 (GRCm39)	N73I	possibly damaging	Het
Eya2	T	C	2: 165,529,657 (GRCm39)		probably null	Het
Fubp1	A	G	3: 151,923,652 (GRCm39)	Q123R	possibly damaging	Het
Galns	A	G	8: 123,311,693 (GRCm39)	I439T	possibly damaging	Het
Gm57858	A	T	3: 36,079,506 (GRCm39)	S261R	possibly damaging	Het
Gsdmd	T	G	15: 75,736,803 (GRCm39)	L140R	probably damaging	Het
Hcrtr1	A	G	4: 130,029,478 (GRCm39)	V201A	possibly damaging	Het
Ildr2	T	A	1: 166,135,361 (GRCm39)	M371K	probably benign	Het
Kalrn	G	A	16: 34,134,582 (GRCm39)	T412I	possibly damaging	Het
Kdm5b	C	T	1: 134,552,656 (GRCm39)	Q1211*	probably null	Het
Loxhd1	T	C	18: 77,517,671 (GRCm39)	S1840P	possibly damaging	Het
Maml2	A	G	9: 13,617,781 (GRCm39)	M376V	probably benign	Het
Mgat4e	T	C	1: 134,469,745 (GRCm39)	T100A	probably damaging	Het
Myo18b	T	A	5: 113,013,168 (GRCm39)	T812S	possibly damaging	Het
Nanp	T	A	2: 150,881,158 (GRCm39)	E30V	probably null	Het
Or2w1b	G	T	13: 21,300,217 (GRCm39)	M118I	probably damaging	Het
Or4c107	T	G	2: 88,788,849 (GRCm39)	L13R	probably damaging	Het
Or5ac21	A	T	16: 59,123,990 (GRCm39)	H158L	probably damaging	Het
Parp3	T	A	9: 106,351,393 (GRCm39)	N241I	probably benign	Het
Piezo2	T	C	18: 63,175,610 (GRCm39)	N1924D	probably benign	Het
Pou1f1	A	G	16: 65,326,811 (GRCm39)	N137S	probably damaging	Het
Ptgdr	A	G	14: 45,096,094 (GRCm39)	M206T	probably damaging	Het
Ptprd	T	C	4: 76,004,696 (GRCm39)	T20A	probably benign	Het
Rexo1	G	C	10: 80,385,497 (GRCm39)	S520R	probably benign	Het
Sgip1	T	A	4: 102,727,005 (GRCm39)	S94T	probably benign	Het
Slc35e3	A	G	10: 117,576,785 (GRCm39)	V182A	probably benign	Het
Spry4	C	A	18: 38,722,982 (GRCm39)	K260N	probably damaging	Het
Sync	A	T	4: 129,187,375 (GRCm39)	M136L	probably benign	Het
Tm7sf2	A	G	19: 6,120,638 (GRCm39)	V425A	probably benign	Het
Trim21	T	A	7: 102,208,742 (GRCm39)	M326L	probably benign	Het
Trim62	A	G	4: 128,790,677 (GRCm39)	Q158R	probably benign	Het
Tubgcp2	T	A	7: 139,580,964 (GRCm39)	K663M	probably damaging	Het
Uggt1	T	C	1: 36,202,316 (GRCm39)	I1094V	probably damaging	Het
Urb1	A	G	16: 90,594,798 (GRCm39)	S245P	probably damaging	Het
Vwa3a	A	T	7: 120,351,838 (GRCm39)	D34V	probably null	Het
Zbtb45	C	T	7: 12,741,326 (GRCm39)	A311T	possibly damaging	Het
Zfp655	T	C	5: 145,173,999 (GRCm39)	S135P	unknown	Het

Other mutations in Slfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Slfn2	APN	11	82,960,670 (GRCm39)	missense	probably benign	0.32
IGL02407:Slfn2	APN	11	82,960,402 (GRCm39)	missense	probably benign	0.00
IGL03303:Slfn2	APN	11	82,960,293 (GRCm39)	missense	possibly damaging	0.82
elektra	UTSW	11	82,960,426 (GRCm39)	missense	probably damaging	1.00
elektra2	UTSW	11	82,960,390 (GRCm39)	missense	probably benign	0.05
R2270:Slfn2	UTSW	11	82,960,761 (GRCm39)	missense	probably damaging	0.99
R2392:Slfn2	UTSW	11	82,956,154 (GRCm39)	missense	possibly damaging	0.91
R3436:Slfn2	UTSW	11	82,960,390 (GRCm39)	missense	probably benign	0.05
R3437:Slfn2	UTSW	11	82,960,390 (GRCm39)	missense	probably benign	0.05
R5849:Slfn2	UTSW	11	82,960,402 (GRCm39)	missense	probably benign	0.00
R7738:Slfn2	UTSW	11	82,960,799 (GRCm39)	missense	probably damaging	1.00
R8211:Slfn2	UTSW	11	82,960,585 (GRCm39)	missense	possibly damaging	0.50
R8465:Slfn2	UTSW	11	82,960,487 (GRCm39)	missense	probably damaging	1.00
R8986:Slfn2	UTSW	11	82,960,427 (GRCm39)	missense	possibly damaging	0.71
R8987:Slfn2	UTSW	11	82,960,363 (GRCm39)	missense	probably damaging	0.97
R9627:Slfn2	UTSW	11	82,960,367 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCGATCTCGTGCTTCTAGAGAG -3'
(R):5'- CTGAGCAACCAGGTTTCAGG -3'

Sequencing Primer
(F):5'- CTCGTGCTTCTAGAGAGTGAAATAG -3'
(R):5'- AACCAGGTTTCAGGCTGGG -3'

Posted On

2019-10-24