Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Slfn14'

373005

Institutional Source

Beutler Lab

Gene Symbol

Slfn14

Ensembl Gene

ENSMUSG00000082101

Gene Name

schlafen 14

Synonyms

LOC237890, Slfn14-ps

MMRRC Submission

042449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83165936-83177552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83169982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 554 (L554P)

Ref Sequence

ENSEMBL: ENSMUSP00000139132 (fasta)

Gene Model

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

AlphaFold

V9GXG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000163961
AA Change: L554P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: L554P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,872 (GRCm39)	T153K	possibly damaging	Het
Abca5	A	C	11: 110,170,142 (GRCm39)	Y1318D	probably benign	Het
Adam18	A	G	8: 25,164,117 (GRCm39)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,708,963 (GRCm39)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,032,296 (GRCm39)		probably null	Het
Bdkrb2	T	C	12: 105,557,917 (GRCm39)	W53R	probably benign	Het
Blm	T	A	7: 80,116,574 (GRCm39)	I1111L	probably benign	Het
Bltp1	A	G	3: 37,019,117 (GRCm39)	I2007V	probably damaging	Het
Bmp3	T	G	5: 99,003,066 (GRCm39)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,220,817 (GRCm39)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,486,183 (GRCm39)	T560M	probably benign	Het
Cimap1a	T	C	7: 140,428,191 (GRCm39)	M1T	probably null	Het
Cmtm8	C	A	9: 114,625,233 (GRCm39)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm39)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,507,323 (GRCm39)	V252E	unknown	Het
Col6a4	A	T	9: 105,949,178 (GRCm39)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm39)	S372P	probably benign	Het
Daam2	A	T	17: 49,797,173 (GRCm39)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,755,576 (GRCm39)	D216G	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,364,636 (GRCm39)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 33,380,505 (GRCm39)		noncoding transcript	Het
Gnb1	A	G	4: 155,627,524 (GRCm39)	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,544,980 (GRCm39)	A204V	probably null	Het
Hnrnpu	T	C	1: 178,161,459 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,009,569 (GRCm39)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,775,889 (GRCm39)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,551,572 (GRCm39)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Lipt1	T	G	1: 37,914,610 (GRCm39)	L222R	probably damaging	Het
Lrrc41	A	G	4: 115,950,374 (GRCm39)		probably benign	Het
Lrrc59	T	C	11: 94,525,498 (GRCm39)	V98A	probably benign	Het
Mast4	A	G	13: 102,910,692 (GRCm39)		probably null	Het
Mdc1	C	T	17: 36,161,286 (GRCm39)	S733F	probably benign	Het
Mknk1	C	T	4: 115,735,383 (GRCm39)		probably benign	Het
Mtmr7	A	G	8: 41,043,505 (GRCm39)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,778,428 (GRCm39)	D1G	possibly damaging	Het
Or7c70	T	G	10: 78,683,409 (GRCm39)	L113F	probably damaging	Het
Phkb	T	A	8: 86,628,540 (GRCm39)	V183E	probably damaging	Het
Pola2	T	C	19: 6,003,892 (GRCm39)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,778,552 (GRCm39)	V412I	probably benign	Het
Psmc4	C	A	7: 27,746,937 (GRCm39)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,578,586 (GRCm39)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,355,311 (GRCm39)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,781,859 (GRCm39)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,253,399 (GRCm39)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,399,310 (GRCm39)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Spink2	G	T	5: 77,353,239 (GRCm39)	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Taar8b	A	T	10: 23,968,030 (GRCm39)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,968,918 (GRCm39)	E35G	probably benign	Het
Tmc5	C	A	7: 118,228,052 (GRCm39)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem72	T	C	6: 116,675,319 (GRCm39)	T58A	probably benign	Het
Ttc7	C	T	17: 87,641,749 (GRCm39)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,868,722 (GRCm39)	E449G	probably benign	Het
Ubr4	C	A	4: 139,129,857 (GRCm39)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,704,372 (GRCm39)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,129,878 (GRCm39)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,007,811 (GRCm39)	H247L	probably damaging	Het
Zfp526	C	T	7: 24,925,295 (GRCm39)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,296,992 (GRCm39)	H47Q	probably benign	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
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
R7070:Slfn14	UTSW	11	83,167,531 (GRCm39)	missense	probably benign	0.27
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'- GGAGTCATTTTCACAAACAAAGAGG -3'
(R):5'- ACAAACTCTTGGAGGCTACCC -3'

Sequencing Primer
(F):5'- CATTTTCACAAACAAAGAGGATCTC -3'
(R):5'- CCCAGGGAAAATATGTGTCATTCC -3'

Posted On

2016-03-01