Incidental Mutation 'R2230:Fam227a'
| ID |
240013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227a
|
| Ensembl Gene |
ENSMUSG00000042564 |
| Gene Name |
family with sequence similarity 227, member A |
| Synonyms |
4933432B09Rik |
| MMRRC Submission |
040231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2230 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79499582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 591
(Y591F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109646]
[ENSMUST00000109648]
[ENSMUST00000187519]
[ENSMUST00000191401]
[ENSMUST00000229064]
[ENSMUST00000230366]
|
| AlphaFold |
Q9D3V8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109646
AA Change: Y239F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: Y239F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109648
AA Change: Y595F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: Y595F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FWWh
|
134 |
295 |
1.4e-51 |
PFAM |
|
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187519
AA Change: Y595F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: Y595F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FWWh
|
132 |
295 |
1e-47 |
PFAM |
|
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
567 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191401
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229064
AA Change: Y591F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230366
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,521,347 (GRCm39) |
N280K |
probably damaging |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,340 (GRCm39) |
K53R |
probably benign |
Het |
| Atr |
A |
G |
9: 95,802,818 (GRCm39) |
R1827G |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,625,032 (GRCm39) |
E502G |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,371 (GRCm39) |
M138K |
possibly damaging |
Het |
| Cdon |
T |
C |
9: 35,403,222 (GRCm39) |
|
probably null |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,244,323 (GRCm39) |
I1036F |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,456,102 (GRCm39) |
D553G |
probably benign |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Gm10650 |
A |
G |
3: 127,833,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21850 |
G |
T |
2: 153,900,248 (GRCm39) |
V202L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,435,938 (GRCm39) |
E644D |
possibly damaging |
Het |
| Hypk |
G |
A |
2: 121,287,773 (GRCm39) |
|
probably null |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| Mgll |
G |
A |
6: 88,802,714 (GRCm39) |
V318M |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
| Musk |
A |
T |
4: 58,333,672 (GRCm39) |
I256F |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,888 (GRCm39) |
D759G |
probably benign |
Het |
| Nkx2-1 |
G |
A |
12: 56,580,071 (GRCm39) |
Q290* |
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or7g16 |
A |
G |
9: 18,727,021 (GRCm39) |
S190P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,442 (GRCm39) |
T226A |
probably benign |
Het |
| Pabpc2 |
G |
A |
18: 39,908,123 (GRCm39) |
V463I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,941,105 (GRCm39) |
R1302L |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,941,610 (GRCm39) |
|
probably benign |
Het |
| Ppl |
G |
A |
16: 4,906,845 (GRCm39) |
T1150I |
possibly damaging |
Het |
| Prkag2 |
G |
T |
5: 25,113,362 (GRCm39) |
A113E |
probably benign |
Het |
| Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,994,345 (GRCm39) |
T380A |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,477,437 (GRCm39) |
Q5123K |
probably benign |
Het |
| Tbc1d21 |
A |
C |
9: 58,270,363 (GRCm39) |
N137K |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,699,573 (GRCm39) |
C317Y |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,223,047 (GRCm39) |
I1377N |
probably damaging |
Het |
| Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,865,260 (GRCm39) |
V544A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,569,527 (GRCm39) |
F267L |
probably benign |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
| Vwa8 |
T |
C |
14: 79,329,843 (GRCm39) |
|
probably null |
Het |
| Zfp708 |
A |
T |
13: 67,219,036 (GRCm39) |
Y229* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,775,242 (GRCm39) |
M1745K |
probably damaging |
Het |
|
| Other mutations in Fam227a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Fam227a
|
APN |
15 |
79,518,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01807:Fam227a
|
APN |
15 |
79,533,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01936:Fam227a
|
APN |
15 |
79,496,747 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02355:Fam227a
|
APN |
15 |
79,528,139 (GRCm39) |
intron |
probably benign |
|
|
IGL02362:Fam227a
|
APN |
15 |
79,528,139 (GRCm39) |
intron |
probably benign |
|
|
IGL02569:Fam227a
|
APN |
15 |
79,518,323 (GRCm39) |
missense |
probably benign |
|
|
IGL02713:Fam227a
|
APN |
15 |
79,520,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL02734:Fam227a
|
APN |
15 |
79,502,042 (GRCm39) |
splice site |
probably benign |
|
|
IGL02816:Fam227a
|
APN |
15 |
79,510,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03354:Fam227a
|
APN |
15 |
79,520,951 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0105:Fam227a
|
UTSW |
15 |
79,505,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0194:Fam227a
|
UTSW |
15 |
79,524,870 (GRCm39) |
nonsense |
probably null |
|
|
R0437:Fam227a
|
UTSW |
15 |
79,528,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0786:Fam227a
|
UTSW |
15 |
79,510,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0925:Fam227a
|
UTSW |
15 |
79,505,006 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1200:Fam227a
|
UTSW |
15 |
79,496,738 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1424:Fam227a
|
UTSW |
15 |
79,518,309 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1474:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1495:Fam227a
|
UTSW |
15 |
79,510,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1561:Fam227a
|
UTSW |
15 |
79,520,963 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1661:Fam227a
|
UTSW |
15 |
79,504,878 (GRCm39) |
splice site |
probably null |
|
|
R1669:Fam227a
|
UTSW |
15 |
79,504,878 (GRCm39) |
splice site |
probably null |
|
|
R1967:Fam227a
|
UTSW |
15 |
79,521,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1976:Fam227a
|
UTSW |
15 |
79,510,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2197:Fam227a
|
UTSW |
15 |
79,507,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2231:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2232:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2910:Fam227a
|
UTSW |
15 |
79,520,935 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3027:Fam227a
|
UTSW |
15 |
79,532,934 (GRCm39) |
splice site |
probably null |
|
|
R3943:Fam227a
|
UTSW |
15 |
79,505,060 (GRCm39) |
splice site |
probably benign |
|
|
R4811:Fam227a
|
UTSW |
15 |
79,499,628 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4845:Fam227a
|
UTSW |
15 |
79,533,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4896:Fam227a
|
UTSW |
15 |
79,521,255 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4934:Fam227a
|
UTSW |
15 |
79,521,262 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4941:Fam227a
|
UTSW |
15 |
79,524,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Fam227a
|
UTSW |
15 |
79,520,936 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5369:Fam227a
|
UTSW |
15 |
79,499,637 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5593:Fam227a
|
UTSW |
15 |
79,524,259 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6311:Fam227a
|
UTSW |
15 |
79,524,895 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6362:Fam227a
|
UTSW |
15 |
79,527,551 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6532:Fam227a
|
UTSW |
15 |
79,520,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Fam227a
|
UTSW |
15 |
79,518,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7619:Fam227a
|
UTSW |
15 |
79,501,967 (GRCm39) |
missense |
probably benign |
|
|
R7719:Fam227a
|
UTSW |
15 |
79,504,913 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8006:Fam227a
|
UTSW |
15 |
79,518,299 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8048:Fam227a
|
UTSW |
15 |
79,533,959 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8175:Fam227a
|
UTSW |
15 |
79,524,861 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8439:Fam227a
|
UTSW |
15 |
79,514,271 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9014:Fam227a
|
UTSW |
15 |
79,504,958 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9034:Fam227a
|
UTSW |
15 |
79,532,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9582:Fam227a
|
UTSW |
15 |
79,501,978 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9613:Fam227a
|
UTSW |
15 |
79,518,284 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9668:Fam227a
|
UTSW |
15 |
79,526,444 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACTTTCATATGAGGTCGCCTG -3'
(R):5'- CATCAGGGTGCCAGTGAAAC -3'
Sequencing Primer
(F):5'- ATATGAGGTCGCCTGGCACTG -3'
(R):5'- TGCCAGTGAAACTGCTGCTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation