Incidental Mutation 'R7601:Fam114a2'
| ID |
588017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam114a2
|
| Ensembl Gene |
ENSMUSG00000020523 |
| Gene Name |
family with sequence similarity 114, member A2 |
| Synonyms |
9030624B09Rik, 1810073G14Rik |
| MMRRC Submission |
045643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
57373819-57409443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57405042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 20
(K20R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020830]
[ENSMUST00000020831]
[ENSMUST00000108849]
[ENSMUST00000108850]
|
| AlphaFold |
Q8VE88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020830
|
| SMART Domains |
Protein: ENSMUSP00000020830
Gene: ENSMUSG00000020522
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020831
AA Change: K20R
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: K20R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF719
|
68 |
236 |
5e-72 |
PFAM |
|
low complexity region
|
263 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108849
|
| SMART Domains |
Protein: ENSMUSP00000104477
Gene: ENSMUSG00000020522
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IGc2
|
59 |
124 |
7.07e-13 |
SMART |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108850
AA Change: K20R
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: K20R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF719
|
77 |
243 |
4.5e-71 |
PFAM |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,741 (GRCm39) |
L16P |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,193,882 (GRCm39) |
Y746* |
probably null |
Het |
| Abcd4 |
A |
G |
12: 84,660,719 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,715 (GRCm39) |
D342G |
probably damaging |
Het |
| Als2 |
G |
T |
1: 59,209,161 (GRCm39) |
T1466K |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,687,603 (GRCm39) |
I465N |
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,846,627 (GRCm39) |
S309P |
probably damaging |
Het |
| Cdh22 |
A |
G |
2: 164,954,466 (GRCm39) |
L685P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,772 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,464,655 (GRCm39) |
E145* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,905,129 (GRCm39) |
V161E |
probably benign |
Het |
| Eeig2 |
T |
A |
3: 108,895,628 (GRCm39) |
T151S |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,398,147 (GRCm39) |
G279D |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,738,788 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,080,394 (GRCm39) |
I733L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,604,208 (GRCm39) |
V32A |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lum |
A |
T |
10: 97,404,168 (GRCm39) |
Y21F |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,216,454 (GRCm39) |
S2740P |
unknown |
Het |
| Nav1 |
A |
T |
1: 135,388,176 (GRCm39) |
D1082E |
unknown |
Het |
| Nmur1 |
A |
C |
1: 86,315,741 (GRCm39) |
C41W |
probably damaging |
Het |
| Or10ad1c |
G |
A |
15: 98,084,860 (GRCm39) |
H273Y |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,565 (GRCm39) |
V267A |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,597 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,674 (GRCm39) |
V76A |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,094,808 (GRCm39) |
S531P |
not run |
Het |
| Phtf1 |
T |
A |
3: 103,901,161 (GRCm39) |
H403Q |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,210,220 (GRCm39) |
|
probably null |
Het |
| Pigh |
G |
A |
12: 79,132,479 (GRCm39) |
T111I |
probably damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,304 (GRCm39) |
E88G |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,720,526 (GRCm39) |
T134M |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,809 (GRCm39) |
Y81F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,847,560 (GRCm39) |
S43P |
probably benign |
Het |
| Sephs2 |
A |
T |
7: 126,872,118 (GRCm39) |
I325K |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,713,994 (GRCm39) |
N750K |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,001,897 (GRCm39) |
M519K |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,072,152 (GRCm39) |
E273G |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,480 (GRCm39) |
S724F |
unknown |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam114a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Fam114a2
|
APN |
11 |
57,378,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Fam114a2
|
APN |
11 |
57,405,099 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01809:Fam114a2
|
APN |
11 |
57,404,461 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01972:Fam114a2
|
APN |
11 |
57,400,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Fam114a2
|
APN |
11 |
57,390,627 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0010:Fam114a2
|
UTSW |
11 |
57,404,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Fam114a2
|
UTSW |
11 |
57,404,066 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1645:Fam114a2
|
UTSW |
11 |
57,390,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2426:Fam114a2
|
UTSW |
11 |
57,383,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3021:Fam114a2
|
UTSW |
11 |
57,390,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3107:Fam114a2
|
UTSW |
11 |
57,390,561 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6149:Fam114a2
|
UTSW |
11 |
57,378,415 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6248:Fam114a2
|
UTSW |
11 |
57,383,942 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6306:Fam114a2
|
UTSW |
11 |
57,404,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Fam114a2
|
UTSW |
11 |
57,374,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7485:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Fam114a2
|
UTSW |
11 |
57,404,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Fam114a2
|
UTSW |
11 |
57,404,542 (GRCm39) |
missense |
probably benign |
|
|
R7662:Fam114a2
|
UTSW |
11 |
57,398,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8033:Fam114a2
|
UTSW |
11 |
57,398,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9335:Fam114a2
|
UTSW |
11 |
57,397,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF024:Fam114a2
|
UTSW |
11 |
57,383,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Fam114a2
|
UTSW |
11 |
57,404,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1186:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1187:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1188:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1189:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1190:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1191:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,390,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,380,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1192:Fam114a2
|
UTSW |
11 |
57,374,858 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,405,060 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Fam114a2
|
UTSW |
11 |
57,390,623 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAATTAGTACTGATCCCACACCC -3'
(R):5'- ACAATGTCAGCTTCTGGTGGG -3'
Sequencing Primer
(F):5'- AGTACTGATCCCACACCCTTTTTAAG -3'
(R):5'- AGGTGGCTGGAGGTATATCGAATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation