Incidental Mutation 'R3745:Fam214a'
| ID |
271170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam214a
|
| Ensembl Gene |
ENSMUSG00000034858 |
| Gene Name |
family with sequence similarity 214, member A |
| Synonyms |
BC031353, C130047D21Rik, 6330415I01Rik |
| MMRRC Submission |
040731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R3745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74952884-75032468 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75009862 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 581
(V581A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081746]
[ENSMUST00000170846]
[ENSMUST00000214755]
[ENSMUST00000215370]
|
| AlphaFold |
Q69ZK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081746
AA Change: V588A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: V588A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
361 |
458 |
7.22e-14 |
PROSPERO |
|
internal_repeat_1
|
473 |
570 |
7.22e-14 |
PROSPERO |
|
low complexity region
|
840 |
859 |
N/A |
INTRINSIC |
|
DUF4210
|
885 |
943 |
8.5e-29 |
SMART |
|
Pfam:Chromosome_seg
|
1024 |
1081 |
3.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170846
AA Change: V581A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: V581A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
354 |
451 |
8.38e-14 |
PROSPERO |
|
internal_repeat_1
|
466 |
563 |
8.38e-14 |
PROSPERO |
|
low complexity region
|
833 |
852 |
N/A |
INTRINSIC |
|
DUF4210
|
878 |
936 |
8.5e-29 |
SMART |
|
Pfam:Chromosome_seg
|
1016 |
1074 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214755
AA Change: V581A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215370
AA Change: V581A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,794,154 (GRCm38) |
C172* |
probably null |
Het |
| Acot9 |
G |
A |
X: 155,271,945 (GRCm38) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,915,305 (GRCm38) |
V199A |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,245,870 (GRCm38) |
H594Y |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,563,722 (GRCm38) |
Y473N |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,566,560 (GRCm38) |
E351K |
probably damaging |
Het |
| Astn1 |
G |
T |
1: 158,502,060 (GRCm38) |
A162S |
probably damaging |
Het |
| Auts2 |
A |
G |
5: 131,476,587 (GRCm38) |
|
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,992,819 (GRCm38) |
M507K |
probably benign |
Het |
| Crct1 |
C |
A |
3: 93,014,707 (GRCm38) |
|
probably benign |
Het |
| Cyp2d11 |
A |
C |
15: 82,391,855 (GRCm38) |
I175S |
probably benign |
Het |
| Dclk1 |
A |
G |
3: 55,247,442 (GRCm38) |
N98D |
possibly damaging |
Het |
| Erich5 |
T |
A |
15: 34,470,732 (GRCm38) |
C36S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,186,779 (GRCm38) |
I540V |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,677,790 (GRCm38) |
S303R |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Gbp9 |
C |
A |
5: 105,105,858 (GRCm38) |
|
probably benign |
Het |
| Gm6408 |
G |
T |
5: 146,484,436 (GRCm38) |
V292F |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,831,340 (GRCm38) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,170,856 (GRCm38) |
D1136G |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,810,629 (GRCm38) |
T204K |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 111,315,567 (GRCm38) |
|
probably benign |
Het |
| Msantd1 |
T |
A |
5: 34,923,467 (GRCm38) |
V155E |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,234,485 (GRCm38) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,976,163 (GRCm38) |
C375S |
possibly damaging |
Het |
| Nell2 |
A |
C |
15: 95,432,673 (GRCm38) |
C231W |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,358,874 (GRCm38) |
S421P |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,491 (GRCm38) |
V50E |
probably damaging |
Het |
| Olfr1425 |
A |
G |
19: 12,074,380 (GRCm38) |
L84P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,678,421 (GRCm38) |
|
probably benign |
Het |
| Pkn3 |
A |
G |
2: 30,090,341 (GRCm38) |
K785R |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,239,151 (GRCm38) |
|
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,340,407 (GRCm38) |
I357T |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,698,185 (GRCm38) |
T284I |
unknown |
Het |
| Psma3 |
T |
C |
12: 70,978,748 (GRCm38) |
S13P |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 (GRCm38) |
E944A |
probably benign |
Het |
| Rpl6l |
T |
C |
10: 111,126,365 (GRCm38) |
|
noncoding transcript |
Het |
| Tex11 |
A |
G |
X: 100,916,572 (GRCm38) |
V522A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,678,241 (GRCm38) |
E573G |
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,657,741 (GRCm38) |
S259P |
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,348,327 (GRCm38) |
E549G |
probably benign |
Het |
| Vmn1r66 |
C |
T |
7: 10,274,321 (GRCm38) |
A262T |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,330,661 (GRCm38) |
D1131E |
probably benign |
Het |
| Zfp445 |
A |
C |
9: 122,854,726 (GRCm38) |
D289E |
probably benign |
Het |
|
| Other mutations in Fam214a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Fam214a
|
APN |
9 |
75,025,790 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL00588:Fam214a
|
APN |
9 |
75,009,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01887:Fam214a
|
APN |
9 |
75,017,057 (GRCm38) |
missense |
probably benign |
0.39 |
|
IGL02828:Fam214a
|
APN |
9 |
75,006,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03060:Fam214a
|
APN |
9 |
75,010,168 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03277:Fam214a
|
APN |
9 |
75,009,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0052:Fam214a
|
UTSW |
9 |
75,018,983 (GRCm38) |
splice site |
probably benign |
|
|
R0052:Fam214a
|
UTSW |
9 |
75,018,983 (GRCm38) |
splice site |
probably benign |
|
|
R0615:Fam214a
|
UTSW |
9 |
75,004,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0723:Fam214a
|
UTSW |
9 |
75,009,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1428:Fam214a
|
UTSW |
9 |
75,006,321 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1448:Fam214a
|
UTSW |
9 |
75,010,174 (GRCm38) |
nonsense |
probably null |
|
|
R1656:Fam214a
|
UTSW |
9 |
75,008,959 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2024:Fam214a
|
UTSW |
9 |
75,010,390 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3147:Fam214a
|
UTSW |
9 |
75,008,838 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4105:Fam214a
|
UTSW |
9 |
75,008,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4224:Fam214a
|
UTSW |
9 |
75,008,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4496:Fam214a
|
UTSW |
9 |
75,031,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4519:Fam214a
|
UTSW |
9 |
75,023,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4715:Fam214a
|
UTSW |
9 |
75,012,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4885:Fam214a
|
UTSW |
9 |
75,006,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5009:Fam214a
|
UTSW |
9 |
75,008,889 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5574:Fam214a
|
UTSW |
9 |
75,010,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Fam214a
|
UTSW |
9 |
75,025,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5696:Fam214a
|
UTSW |
9 |
75,010,117 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5891:Fam214a
|
UTSW |
9 |
75,004,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5936:Fam214a
|
UTSW |
9 |
75,009,304 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6165:Fam214a
|
UTSW |
9 |
75,025,672 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6228:Fam214a
|
UTSW |
9 |
75,006,363 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6419:Fam214a
|
UTSW |
9 |
75,009,337 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6499:Fam214a
|
UTSW |
9 |
75,023,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6631:Fam214a
|
UTSW |
9 |
74,953,825 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6649:Fam214a
|
UTSW |
9 |
75,010,150 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6849:Fam214a
|
UTSW |
9 |
75,009,312 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7189:Fam214a
|
UTSW |
9 |
75,004,351 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7402:Fam214a
|
UTSW |
9 |
75,006,386 (GRCm38) |
nonsense |
probably null |
|
|
R8691:Fam214a
|
UTSW |
9 |
75,010,053 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8769:Fam214a
|
UTSW |
9 |
75,025,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8944:Fam214a
|
UTSW |
9 |
75,004,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9323:Fam214a
|
UTSW |
9 |
74,976,133 (GRCm38) |
intron |
probably benign |
|
|
R9621:Fam214a
|
UTSW |
9 |
75,010,230 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9649:Fam214a
|
UTSW |
9 |
75,017,067 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCAGCAAGCACGACTC -3'
(R):5'- TGCAATGCAAACACTGTTTCTCAG -3'
Sequencing Primer
(F):5'- CCATTCCTTCTAAAGTGTTCAGGAG -3'
(R):5'- ATGGCTCATTTCTTGCTCCTTAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation