Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Slfn3'

244009

Institutional Source

Beutler Lab

Gene Symbol

Slfn3

Ensembl Gene

ENSMUSG00000018986

Gene Name

schlafen 3

Synonyms

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83191330-83215154 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83212972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 223 (I223S)

Ref Sequence

ENSEMBL: ENSMUSP00000150425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019130] [ENSMUST00000214041]

AlphaFold

A0A1L1STQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000019130
AA Change: I100S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: I100S

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	165	303	5.5e-11	PFAM
low complexity region	394	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214041
AA Change: I223S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216599

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 120,010,274 (GRCm38)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,134,869 (GRCm38)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,203,810 (GRCm38)	*986W	probably null	Het
BC024139	T	A	15: 76,125,917 (GRCm38)	D105V	probably damaging	Het
BC049715	C	T	6: 136,840,436 (GRCm38)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,340 (GRCm38)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,587,651 (GRCm38)	V33A	probably benign	Het
Cldn1	A	G	16: 26,359,199 (GRCm38)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,992,911 (GRCm38)	C476*	probably null	Het
Col14a1	T	G	15: 55,466,690 (GRCm38)		probably null	Het
Crisp1	C	T	17: 40,313,074 (GRCm38)	M1I	probably null	Het
Dip2b	T	A	15: 100,203,216 (GRCm38)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,701,463 (GRCm38)	E262G	probably benign	Het
Dnai7	A	G	6: 145,208,429 (GRCm38)		probably benign	Het
Dpp4	A	C	2: 62,378,239 (GRCm38)	V187G	possibly damaging	Het
F5	A	G	1: 164,194,402 (GRCm38)	D1482G	probably benign	Het
Fads6	T	A	11: 115,286,235 (GRCm38)	T132S	probably damaging	Het
Fat4	A	G	3: 38,890,422 (GRCm38)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,915,190 (GRCm38)		probably null	Het
Fstl1	C	T	16: 37,777,291 (GRCm38)		probably benign	Het
Get3	G	A	8: 85,025,258 (GRCm38)		probably benign	Het
Gm5089	T	C	14: 122,436,102 (GRCm38)	Y69C	unknown	Het
Gm9871	T	C	6: 101,796,240 (GRCm38)		noncoding transcript	Het
Gpr89	A	G	3: 96,872,515 (GRCm38)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,668,664 (GRCm38)		probably benign	Het
Gtsf1	T	A	15: 103,419,964 (GRCm38)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,555,377 (GRCm38)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,390,666 (GRCm38)	E285D	probably benign	Het
Il23r	T	A	6: 67,426,667 (GRCm38)		probably null	Het
Iqch	T	C	9: 63,512,299 (GRCm38)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,824,084 (GRCm38)		probably null	Het
Kif26b	A	T	1: 178,928,842 (GRCm38)		probably null	Het
Loxl1	A	G	9: 58,297,678 (GRCm38)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,482,366 (GRCm38)	D2526G	possibly damaging	Het
Map4	G	T	9: 110,081,457 (GRCm38)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,169,097 (GRCm38)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,808,039 (GRCm38)		probably null	Het
Myo18a	C	A	11: 77,819,972 (GRCm38)		probably benign	Het
Nphp4	T	A	4: 152,503,008 (GRCm38)		probably benign	Het
Nrg3	T	C	14: 38,381,702 (GRCm38)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,779,634 (GRCm38)		probably null	Het
Or8b1	G	T	9: 38,488,055 (GRCm38)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,624,005 (GRCm38)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,436,805 (GRCm38)	N335D	probably damaging	Het
Pdzph1	T	C	17: 58,888,167 (GRCm38)		probably null	Het
Pea15a	C	T	1: 172,199,137 (GRCm38)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,437,927 (GRCm38)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,864,590 (GRCm38)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,879,112 (GRCm38)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,377,468 (GRCm38)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,489,661 (GRCm38)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,727,723 (GRCm38)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Sf3a1	T	A	11: 4,177,443 (GRCm38)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,163,089 (GRCm38)		probably benign	Het
Smarca1	C	T	X: 47,875,283 (GRCm38)	V331I	probably benign	Het
Soat1	A	G	1: 156,437,697 (GRCm38)		probably benign	Het
Tinagl1	A	G	4: 130,167,433 (GRCm38)	V308A	probably benign	Het
Tomm22	T	A	15: 79,671,287 (GRCm38)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,496,408 (GRCm38)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,793,130 (GRCm38)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,420,373 (GRCm38)		probably benign	Het
Wbp2	T	C	11: 116,079,598 (GRCm38)		probably null	Het
Xkr7	A	T	2: 153,054,257 (GRCm38)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,145,938 (GRCm38)	C252S	probably benign	Het

Other mutations in Slfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slfn3	APN	11	83,213,431 (GRCm38)	missense	probably damaging	1.00
IGL01405:Slfn3	APN	11	83,214,716 (GRCm38)	missense	possibly damaging	0.90
IGL01631:Slfn3	APN	11	83,213,535 (GRCm38)	missense	probably damaging	0.99
IGL01944:Slfn3	APN	11	83,213,148 (GRCm38)	missense	possibly damaging	0.59
IGL02354:Slfn3	APN	11	83,213,242 (GRCm38)	missense	possibly damaging	0.95
IGL02361:Slfn3	APN	11	83,213,242 (GRCm38)	missense	possibly damaging	0.95
IGL02512:Slfn3	APN	11	83,213,025 (GRCm38)	missense	possibly damaging	0.55
IGL02875:Slfn3	APN	11	83,213,427 (GRCm38)	missense	probably damaging	0.98
IGL02944:Slfn3	APN	11	83,213,011 (GRCm38)	missense	probably damaging	0.99
IGL03402:Slfn3	APN	11	83,213,431 (GRCm38)	missense	probably damaging	1.00
R0452:Slfn3	UTSW	11	83,213,128 (GRCm38)	missense	possibly damaging	0.87
R0506:Slfn3	UTSW	11	83,213,160 (GRCm38)	missense	probably damaging	0.99
R0560:Slfn3	UTSW	11	83,213,152 (GRCm38)	missense	probably damaging	0.99
R0788:Slfn3	UTSW	11	83,212,836 (GRCm38)	missense	possibly damaging	0.47
R1602:Slfn3	UTSW	11	83,212,715 (GRCm38)	missense	probably damaging	1.00
R1713:Slfn3	UTSW	11	83,213,314 (GRCm38)	missense	probably damaging	0.98
R1881:Slfn3	UTSW	11	83,213,376 (GRCm38)	missense	possibly damaging	0.80
R2441:Slfn3	UTSW	11	83,212,683 (GRCm38)	missense	probably benign	0.00
R2921:Slfn3	UTSW	11	83,215,045 (GRCm38)	missense	probably benign	0.01
R4163:Slfn3	UTSW	11	83,212,770 (GRCm38)	missense	probably damaging	1.00
R5099:Slfn3	UTSW	11	83,214,938 (GRCm38)	missense	probably damaging	0.98
R5448:Slfn3	UTSW	11	83,214,605 (GRCm38)	missense	probably damaging	0.99
R6441:Slfn3	UTSW	11	83,214,914 (GRCm38)	missense	probably benign	0.00
R6527:Slfn3	UTSW	11	83,213,106 (GRCm38)	missense	probably benign	0.01
R6785:Slfn3	UTSW	11	83,214,601 (GRCm38)	missense	possibly damaging	0.73
R7128:Slfn3	UTSW	11	83,214,895 (GRCm38)	missense	probably benign	0.00
R7344:Slfn3	UTSW	11	83,212,822 (GRCm38)	missense	probably benign	0.28
R7528:Slfn3	UTSW	11	83,214,905 (GRCm38)	missense	probably benign	0.01
R7763:Slfn3	UTSW	11	83,214,788 (GRCm38)	missense	possibly damaging	0.95
R8155:Slfn3	UTSW	11	83,212,785 (GRCm38)	missense	probably damaging	1.00
R8178:Slfn3	UTSW	11	83,214,679 (GRCm38)	missense	probably benign	0.33
R8210:Slfn3	UTSW	11	83,214,506 (GRCm38)	missense	possibly damaging	0.48
R8347:Slfn3	UTSW	11	83,213,589 (GRCm38)	missense	possibly damaging	0.95
R8671:Slfn3	UTSW	11	83,212,999 (GRCm38)	missense	probably benign	0.00
R9093:Slfn3	UTSW	11	83,213,122 (GRCm38)	missense	probably damaging	0.99
R9106:Slfn3	UTSW	11	83,212,632 (GRCm38)	missense	probably benign	0.00
R9293:Slfn3	UTSW	11	83,214,790 (GRCm38)	missense	possibly damaging	0.85
R9362:Slfn3	UTSW	11	83,212,981 (GRCm38)	missense	probably benign
R9521:Slfn3	UTSW	11	83,212,999 (GRCm38)	missense	probably benign
R9522:Slfn3	UTSW	11	83,212,999 (GRCm38)	missense	probably benign
R9644:Slfn3	UTSW	11	83,214,902 (GRCm38)	missense	probably damaging	1.00
Z1176:Slfn3	UTSW	11	83,213,409 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGCACCCTGCTGAATTCTG -3'
(R):5'- CATAGGCAAGCCAGTCTCTG -3'

Sequencing Primer
(F):5'- CTACAGCTTCACCAGAGATGGAATG -3'
(R):5'- GGCAAGCCAGTCTCTGTTAAATAAG -3'

Posted On

2014-10-16