Incidental Mutation 'R2344:Fam217a'
ID |
245933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam217a
|
Ensembl Gene |
ENSMUSG00000021414 |
Gene Name |
family with sequence similarity 217, member A |
Synonyms |
1700026J04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.159)
|
Stock # |
R2344 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
35093943-35108293 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35094318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 389
(I389M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021851]
[ENSMUST00000077853]
[ENSMUST00000223834]
[ENSMUST00000225242]
|
AlphaFold |
Q9D9W6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021851
AA Change: I480M
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000021851 Gene: ENSMUSG00000021414 AA Change: I480M
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
Pfam:FAM217
|
206 |
411 |
2e-54 |
PFAM |
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
low complexity region
|
444 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077853
|
SMART Domains |
Protein: ENSMUSP00000077019 Gene: ENSMUSG00000021413
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
62 |
N/A |
INTRINSIC |
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
102 |
123 |
N/A |
INTRINSIC |
low complexity region
|
142 |
150 |
N/A |
INTRINSIC |
low complexity region
|
156 |
170 |
N/A |
INTRINSIC |
low complexity region
|
178 |
197 |
N/A |
INTRINSIC |
low complexity region
|
210 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
low complexity region
|
284 |
294 |
N/A |
INTRINSIC |
low complexity region
|
299 |
324 |
N/A |
INTRINSIC |
low complexity region
|
340 |
360 |
N/A |
INTRINSIC |
low complexity region
|
390 |
417 |
N/A |
INTRINSIC |
low complexity region
|
435 |
497 |
N/A |
INTRINSIC |
low complexity region
|
521 |
535 |
N/A |
INTRINSIC |
low complexity region
|
562 |
581 |
N/A |
INTRINSIC |
S_TKc
|
687 |
1003 |
4.99e-74 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220965
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223228
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223834
AA Change: I632M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225242
AA Change: I389M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224613
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4b |
A |
G |
13: 14,328,075 (GRCm39) |
Q247R |
probably benign |
Het |
Bend7 |
A |
T |
2: 4,793,345 (GRCm39) |
D383V |
probably damaging |
Het |
Calm4 |
A |
G |
13: 3,888,298 (GRCm39) |
K135E |
possibly damaging |
Het |
Cdh23 |
T |
C |
10: 60,152,503 (GRCm39) |
D2412G |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,805,736 (GRCm39) |
T1057A |
unknown |
Het |
Dpf3 |
T |
G |
12: 83,397,594 (GRCm39) |
D90A |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,280,490 (GRCm39) |
M348K |
probably benign |
Het |
Elmo3 |
T |
C |
8: 106,035,793 (GRCm39) |
Y558H |
probably damaging |
Het |
Epha3 |
C |
T |
16: 63,472,746 (GRCm39) |
V79I |
possibly damaging |
Het |
Ercc5 |
T |
C |
1: 44,206,329 (GRCm39) |
M414T |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,820,257 (GRCm39) |
F5330S |
possibly damaging |
Het |
Grin2a |
T |
C |
16: 9,481,099 (GRCm39) |
I533V |
probably benign |
Het |
Gsdma2 |
T |
C |
11: 98,546,417 (GRCm39) |
L167P |
probably damaging |
Het |
Gys2 |
A |
T |
6: 142,391,748 (GRCm39) |
F505I |
probably damaging |
Het |
Il6 |
A |
T |
5: 30,219,854 (GRCm39) |
M77L |
probably benign |
Het |
Or6c76b |
A |
T |
10: 129,692,410 (GRCm39) |
T8S |
probably benign |
Het |
Pgm2l1 |
A |
G |
7: 99,909,115 (GRCm39) |
I194V |
probably damaging |
Het |
Rbpjl |
G |
T |
2: 164,256,312 (GRCm39) |
V433L |
probably damaging |
Het |
Rps10 |
C |
G |
17: 27,853,081 (GRCm39) |
R96P |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Supt16 |
T |
C |
14: 52,415,575 (GRCm39) |
T387A |
probably benign |
Het |
Usf3 |
C |
T |
16: 44,036,414 (GRCm39) |
T298M |
probably benign |
Het |
Usp49 |
T |
C |
17: 47,983,828 (GRCm39) |
F278L |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,740,352 (GRCm39) |
C648R |
probably damaging |
Het |
|
Other mutations in Fam217a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01386:Fam217a
|
APN |
13 |
35,099,632 (GRCm39) |
splice site |
probably benign |
|
IGL02222:Fam217a
|
APN |
13 |
35,095,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02302:Fam217a
|
APN |
13 |
35,095,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02371:Fam217a
|
APN |
13 |
35,095,384 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02538:Fam217a
|
APN |
13 |
35,095,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R0324:Fam217a
|
UTSW |
13 |
35,094,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0616:Fam217a
|
UTSW |
13 |
35,097,666 (GRCm39) |
missense |
probably benign |
0.03 |
R1497:Fam217a
|
UTSW |
13 |
35,095,195 (GRCm39) |
missense |
probably damaging |
0.97 |
R1934:Fam217a
|
UTSW |
13 |
35,094,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Fam217a
|
UTSW |
13 |
35,100,737 (GRCm39) |
missense |
probably benign |
0.07 |
R2133:Fam217a
|
UTSW |
13 |
35,097,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4182:Fam217a
|
UTSW |
13 |
35,094,239 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4601:Fam217a
|
UTSW |
13 |
35,095,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Fam217a
|
UTSW |
13 |
35,094,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Fam217a
|
UTSW |
13 |
35,094,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6027:Fam217a
|
UTSW |
13 |
35,094,977 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6496:Fam217a
|
UTSW |
13 |
35,094,785 (GRCm39) |
nonsense |
probably null |
|
R7166:Fam217a
|
UTSW |
13 |
35,094,298 (GRCm39) |
missense |
probably benign |
0.07 |
R7394:Fam217a
|
UTSW |
13 |
35,094,262 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7710:Fam217a
|
UTSW |
13 |
35,095,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8409:Fam217a
|
UTSW |
13 |
35,100,881 (GRCm39) |
missense |
probably benign |
|
R8716:Fam217a
|
UTSW |
13 |
35,108,248 (GRCm39) |
start gained |
probably benign |
|
R8782:Fam217a
|
UTSW |
13 |
35,095,033 (GRCm39) |
missense |
probably benign |
|
R8936:Fam217a
|
UTSW |
13 |
35,095,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Fam217a
|
UTSW |
13 |
35,095,007 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9333:Fam217a
|
UTSW |
13 |
35,100,876 (GRCm39) |
missense |
probably benign |
0.00 |
R9347:Fam217a
|
UTSW |
13 |
35,094,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGTGTCTCAATGATGAACC -3'
(R):5'- GTGGCTCATGATGACCTAAAGAAC -3'
Sequencing Primer
(F):5'- CAATGATGAACCATATTTTAGCTGGG -3'
(R):5'- CCAGTTTAAACCCTTGCCAGG -3'
|
Posted On |
2014-10-30 |