Incidental Mutation 'R6496:Fam217a'
| ID |
523035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam217a
|
| Ensembl Gene |
ENSMUSG00000021414 |
| Gene Name |
family with sequence similarity 217, member A |
| Synonyms |
1700026J04Rik |
| MMRRC Submission |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
35093943-35108293 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 35094785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 234
(R234*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021851]
[ENSMUST00000077853]
[ENSMUST00000223834]
[ENSMUST00000225242]
|
| AlphaFold |
Q9D9W6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021851
AA Change: R325*
|
| SMART Domains |
Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: R325*
| 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 null
Transcript: ENSMUST00000223834
AA Change: R477*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224613
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225242
AA Change: R234*
|
| Meta Mutation Damage Score |
0.9661 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly 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 |
|
R2344:Fam217a
|
UTSW |
13 |
35,094,318 (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 |
|
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'- TTTTGCCAGCACTGCTCAAG -3'
(R):5'- CCAAGTGCCTGTATATGCCG -3'
Sequencing Primer
(F):5'- TGCTCAAGCTCCATTTGGAAAC -3'
(R):5'- ACTCTGGACCTACACAGATTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation