Incidental Mutation 'IGL03402:Slfn14'
| ID |
421453 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slfn14
|
| Ensembl Gene |
ENSMUSG00000082101 |
| Gene Name |
schlafen 14 |
| Synonyms |
LOC237890, Slfn14-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL03402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83165936-83177552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83167139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 792
(K792R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163961]
|
| AlphaFold |
V9GXG1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163961
AA Change: K792R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: K792R
| 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,216,972 (GRCm39) |
H81R |
probably benign |
Het |
| Alg10b |
A |
T |
15: 90,112,532 (GRCm39) |
K459* |
probably null |
Het |
| C8g |
A |
T |
2: 25,388,824 (GRCm39) |
*203K |
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,652,821 (GRCm39) |
E80G |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,583,826 (GRCm39) |
N555K |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,387,273 (GRCm39) |
N1669I |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,480,203 (GRCm39) |
|
probably null |
Het |
| Ear1 |
A |
G |
14: 44,056,575 (GRCm39) |
S98P |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,670 (GRCm39) |
D292E |
possibly damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,430,316 (GRCm39) |
S443G |
probably damaging |
Het |
| Fnip2 |
T |
C |
3: 79,388,583 (GRCm39) |
E716G |
possibly damaging |
Het |
| Gabra1 |
G |
T |
11: 42,024,345 (GRCm39) |
N443K |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,714,894 (GRCm39) |
V700E |
probably damaging |
Het |
| Ifi27l2a |
T |
A |
12: 103,405,772 (GRCm39) |
N162K |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,115,731 (GRCm39) |
T49S |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,463,443 (GRCm39) |
M1750V |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,802 (GRCm39) |
W148R |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,667 (GRCm39) |
M1K |
probably null |
Het |
| Or2y1 |
A |
T |
11: 49,385,873 (GRCm39) |
H171L |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,667 (GRCm39) |
V352A |
probably damaging |
Het |
| Prkca |
T |
A |
11: 108,231,489 (GRCm39) |
Q63L |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Snx19 |
A |
T |
9: 30,351,430 (GRCm39) |
I135F |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,805,165 (GRCm39) |
V271E |
probably benign |
Het |
| Trpv1 |
T |
G |
11: 73,130,463 (GRCm39) |
F190V |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,588 (GRCm39) |
V765A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,679 (GRCm39) |
H68R |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,267,148 (GRCm39) |
I177T |
possibly damaging |
Het |
| Zfp810 |
A |
C |
9: 22,190,441 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation