Mutagenetix > Incidental Mutation

Incidental Mutation 'R7070:Slfn14'

548847

Institutional Source

Beutler Lab

Gene Symbol

Slfn14

Ensembl Gene

ENSMUSG00000082101

Gene Name

schlafen 14

Synonyms

LOC237890, Slfn14-ps

MMRRC Submission

045166-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83165936-83177552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83167531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 661 (R661S)

Ref Sequence

ENSEMBL: ENSMUSP00000139132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163961]

AlphaFold

V9GXG1

Predicted Effect

probably benign
Transcript: ENSMUST00000163961
AA Change: R661S

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: R661S

Domain	Start	End	E-Value	Type
Pfam:AAA_4	195	329	1e-20	PFAM
low complexity region	539	551	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,232 (GRCm39)	Y156H	probably damaging	Het
Abca13	T	A	11: 9,240,701 (GRCm39)	F855I	probably benign	Het
Abca2	T	G	2: 25,333,007 (GRCm39)	F1569V	probably benign	Het
Adcy8	T	A	15: 64,792,404 (GRCm39)	N184I	probably damaging	Het
Akap3	T	C	6: 126,850,987 (GRCm39)	V835A	probably damaging	Het
Atg5	T	A	10: 44,162,150 (GRCm39)	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,152,879 (GRCm39)	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,232 (GRCm39)	H254R	probably damaging	Het
Capza3	C	T	6: 139,987,646 (GRCm39)	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,316,796 (GRCm39)	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,915 (GRCm39)	M585K	probably benign	Het
Chrnb3	A	T	8: 27,883,989 (GRCm39)	Y242F	probably damaging	Het
Cngb3	T	C	4: 19,425,593 (GRCm39)	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,008,278 (GRCm39)	D248G	probably benign	Het
Cntn1	C	T	15: 92,151,917 (GRCm39)	T452M	probably damaging	Het
Cygb	C	A	11: 116,544,851 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Dcaf17	C	T	2: 70,918,857 (GRCm39)	T477M	probably benign	Het
Dpp3	A	T	19: 4,968,356 (GRCm39)	F239I	probably benign	Het
Dst	T	A	1: 34,314,383 (GRCm39)	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,762,685 (GRCm39)	I188F	probably damaging	Het
Galnt5	A	G	2: 57,888,621 (GRCm39)	M74V	probably benign	Het
Grin2a	T	C	16: 9,397,288 (GRCm39)	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,311,657 (GRCm39)	E223D	probably damaging	Het
H2-M5	C	A	17: 37,300,051 (GRCm39)	G41V	possibly damaging	Het
Hars2	C	T	18: 36,924,165 (GRCm39)	R501*	probably null	Het
Heatr4	A	G	12: 84,016,632 (GRCm39)	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,649,787 (GRCm39)	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,589,429 (GRCm39)	V17A	probably damaging	Het
Jak3	A	G	8: 72,137,255 (GRCm39)	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,690,393 (GRCm39)		probably null	Het
Kcnj15	C	G	16: 95,096,690 (GRCm39)	T104S	probably damaging	Het
Kndc1	A	G	7: 139,501,744 (GRCm39)	E927G	probably damaging	Het
Larp1b	G	T	3: 40,931,086 (GRCm39)	G275C	probably damaging	Het
Lyst	C	A	13: 13,932,029 (GRCm39)	H3552Q	probably benign	Het
Mast2	A	T	4: 116,168,052 (GRCm39)	I960N	probably benign	Het
Mcee	G	A	7: 64,050,078 (GRCm39)	V70I	possibly damaging	Het
Muc16	G	A	9: 18,557,219 (GRCm39)	Q3025*	probably null	Het
Nrg1	T	A	8: 32,339,465 (GRCm39)	T45S	probably damaging	Het
Nutm1	T	A	2: 112,079,806 (GRCm39)	H703L	probably benign	Het
Or5m10	G	A	2: 85,718,034 (GRCm39)	V297I	probably benign	Het
Or7a38	A	T	10: 78,753,102 (GRCm39)	I143L	probably benign	Het
Pbx1	A	C	1: 168,023,337 (GRCm39)	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pigm	T	A	1: 172,205,233 (GRCm39)	I323N	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Ptx4	G	A	17: 25,341,971 (GRCm39)	A149T	probably benign	Het
Rab6a	A	G	7: 100,279,064 (GRCm39)	D68G	probably damaging	Het
Rcan3	C	T	4: 135,143,898 (GRCm39)	E185K	probably damaging	Het
Rnf14	A	G	18: 38,434,781 (GRCm39)	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,217,939 (GRCm39)	F192I	probably damaging	Het
Rps6ka1	T	C	4: 133,588,759 (GRCm39)	T285A	probably benign	Het
Rrp8	T	C	7: 105,384,083 (GRCm39)	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,836,299 (GRCm39)	K122E	probably damaging	Het
Senp1	T	C	15: 97,980,187 (GRCm39)	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,754,834 (GRCm39)	D519A	probably damaging	Het
Snta1	T	C	2: 154,222,979 (GRCm39)	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spmap2l	G	T	5: 77,195,124 (GRCm39)		probably null	Het
Stk11ip	C	T	1: 75,504,259 (GRCm39)	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628 (GRCm38)	F76I	probably damaging	Het
Tns2	A	G	15: 102,012,968 (GRCm39)	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,941,912 (GRCm39)	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,136,363 (GRCm39)	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,129,224 (GRCm39)		probably null	Het
Vmn2r69	T	C	7: 85,060,688 (GRCm39)	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,924,313 (GRCm39)	D37E	probably damaging	Het

Other mutations in Slfn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03214:Slfn14	APN	11	83,169,826 (GRCm39)	missense	probably benign	0.01
IGL03402:Slfn14	APN	11	83,167,139 (GRCm39)	missense	probably benign	0.00
R2520:Slfn14	UTSW	11	83,167,013 (GRCm39)	missense	probably damaging	0.99
R2570:Slfn14	UTSW	11	83,174,433 (GRCm39)	missense	probably benign	0.02
R3082:Slfn14	UTSW	11	83,167,519 (GRCm39)	nonsense	probably null
R4611:Slfn14	UTSW	11	83,174,140 (GRCm39)	nonsense	probably null
R4647:Slfn14	UTSW	11	83,167,484 (GRCm39)	missense	probably benign	0.01
R4722:Slfn14	UTSW	11	83,174,244 (GRCm39)	missense	probably benign	0.27
R4833:Slfn14	UTSW	11	83,169,982 (GRCm39)	missense	probably damaging	1.00
R4876:Slfn14	UTSW	11	83,167,098 (GRCm39)	missense	possibly damaging	0.87
R5209:Slfn14	UTSW	11	83,170,459 (GRCm39)	missense	possibly damaging	0.95
R5776:Slfn14	UTSW	11	83,174,425 (GRCm39)	missense	probably damaging	1.00
R5933:Slfn14	UTSW	11	83,170,288 (GRCm39)	missense	probably damaging	0.97
R6174:Slfn14	UTSW	11	83,167,429 (GRCm39)	missense	probably damaging	1.00
R6826:Slfn14	UTSW	11	83,172,644 (GRCm39)	critical splice donor site	probably null
R7042:Slfn14	UTSW	11	83,167,430 (GRCm39)	missense	probably damaging	1.00
R7191:Slfn14	UTSW	11	83,167,575 (GRCm39)	missense	probably benign
R7207:Slfn14	UTSW	11	83,170,214 (GRCm39)	nonsense	probably null
R7297:Slfn14	UTSW	11	83,169,821 (GRCm39)	nonsense	probably null
R7829:Slfn14	UTSW	11	83,172,643 (GRCm39)	critical splice donor site	probably null
R8094:Slfn14	UTSW	11	83,174,119 (GRCm39)	nonsense	probably null
R8263:Slfn14	UTSW	11	83,174,299 (GRCm39)	missense	possibly damaging	0.90
R8735:Slfn14	UTSW	11	83,174,715 (GRCm39)	missense	probably damaging	1.00
R8981:Slfn14	UTSW	11	83,174,455 (GRCm39)	missense	possibly damaging	0.88
R9459:Slfn14	UTSW	11	83,170,198 (GRCm39)	missense	possibly damaging	0.91
R9593:Slfn14	UTSW	11	83,174,733 (GRCm39)	missense	probably benign	0.02
R9600:Slfn14	UTSW	11	83,170,048 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- ATTTTCCGAGGAAACTGAGCAG -3'
(R):5'- ACTTCCTCTGTCAGTGAACTG -3'

Sequencing Primer
(F):5'- GAAGGAACTGGAAGGCCACTACC -3'
(R):5'- CTGATCTGCAAAGAAGAATTAGCCTC -3'

Posted On

2019-05-13