Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Slfn14'

714770

Institutional Source

Beutler Lab

Gene Symbol

Slfn14

Ensembl Gene

ENSMUSG00000082101

Gene Name

schlafen 14

Synonyms

Slfn14-ps, LOC237890

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83275110-83286726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83279372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 482 (Q482P)

Ref Sequence

ENSEMBL: ENSMUSP00000139132 (fasta)

Gene Model

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

AlphaFold

V9GXG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163961
AA Change: Q482P

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: Q482P

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: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	Het

Other mutations in Slfn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03214:Slfn14	APN	11	83279000	missense	probably benign	0.01
IGL03402:Slfn14	APN	11	83276313	missense	probably benign	0.00
R2520:Slfn14	UTSW	11	83276187	missense	probably damaging	0.99
R2570:Slfn14	UTSW	11	83283607	missense	probably benign	0.02
R3082:Slfn14	UTSW	11	83276693	nonsense	probably null
R4611:Slfn14	UTSW	11	83283314	nonsense	probably null
R4647:Slfn14	UTSW	11	83276658	missense	probably benign	0.01
R4722:Slfn14	UTSW	11	83283418	missense	probably benign	0.27
R4833:Slfn14	UTSW	11	83279156	missense	probably damaging	1.00
R4876:Slfn14	UTSW	11	83276272	missense	possibly damaging	0.87
R5209:Slfn14	UTSW	11	83279633	missense	possibly damaging	0.95
R5776:Slfn14	UTSW	11	83283599	missense	probably damaging	1.00
R5933:Slfn14	UTSW	11	83279462	missense	probably damaging	0.97
R6174:Slfn14	UTSW	11	83276603	missense	probably damaging	1.00
R6826:Slfn14	UTSW	11	83281818	critical splice donor site	probably null
R7042:Slfn14	UTSW	11	83276604	missense	probably damaging	1.00
R7070:Slfn14	UTSW	11	83276705	missense	probably benign	0.27
R7191:Slfn14	UTSW	11	83276749	missense	probably benign
R7207:Slfn14	UTSW	11	83279388	nonsense	probably null
R7297:Slfn14	UTSW	11	83278995	nonsense	probably null
R7829:Slfn14	UTSW	11	83281817	critical splice donor site	probably null
R8094:Slfn14	UTSW	11	83283293	nonsense	probably null
R8263:Slfn14	UTSW	11	83283473	missense	possibly damaging	0.90
R8735:Slfn14	UTSW	11	83283889	missense	probably damaging	1.00
R8981:Slfn14	UTSW	11	83283629	missense	possibly damaging	0.88
R9593:Slfn14	UTSW	11	83283907	missense	probably benign	0.02
R9600:Slfn14	UTSW	11	83279222	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- ACTCAGCACAGATCTGGAAC -3'
(R):5'- GACACACCCTTGTTCTCACG -3'

Sequencing Primer
(F):5'- TGGAACACAGTGAGACCAAC -3'
(R):5'- CACGGCATTGTGATATTTTCGAGAAG -3'

Posted On

2022-06-15