Incidental Mutation 'R8006:Fam227a'
| ID |
616649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam227a
|
| Ensembl Gene |
ENSMUSG00000042564 |
| Gene Name |
family with sequence similarity 227, member A |
| Synonyms |
4933432B09Rik |
| MMRRC Submission |
046046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79518299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 335
(I335T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109646]
[ENSMUST00000109648]
[ENSMUST00000187519]
[ENSMUST00000191401]
[ENSMUST00000229064]
[ENSMUST00000230366]
|
| AlphaFold |
Q9D3V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109646
|
| SMART Domains |
Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
| 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: I335T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: I335T
| 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: I335T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: I335T
| 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: I331T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230366
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,944 (GRCm39) |
H351Q |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,229,444 (GRCm39) |
S126P |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,303,199 (GRCm39) |
D14G |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,772 (GRCm39) |
R287G |
|
Het |
| Ankrd13a |
A |
C |
5: 114,942,484 (GRCm39) |
*589S |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,611,889 (GRCm39) |
I151V |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,243,518 (GRCm39) |
D880E |
probably benign |
Het |
| Arl3 |
A |
C |
19: 46,546,813 (GRCm39) |
L4R |
probably damaging |
Het |
| Ate1 |
T |
A |
7: 130,069,118 (GRCm39) |
Q340L |
probably damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,706,306 (GRCm39) |
P930S |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,664,590 (GRCm39) |
Y490H |
probably damaging |
Het |
| Cox18 |
C |
T |
5: 90,371,672 (GRCm39) |
V43M |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,417,790 (GRCm39) |
K176R |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,183 (GRCm39) |
T1004A |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,669 (GRCm39) |
I248V |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,106 (GRCm39) |
T544A |
probably benign |
Het |
| Grm6 |
A |
T |
11: 50,755,484 (GRCm39) |
*872L |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,352,842 (GRCm39) |
Y2109* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,735 (GRCm39) |
V80E |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,556,322 (GRCm39) |
V721A |
possibly damaging |
Het |
| Jade1 |
A |
T |
3: 41,568,124 (GRCm39) |
I731L |
probably benign |
Het |
| Khnyn |
G |
A |
14: 56,125,047 (GRCm39) |
V434I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,425,488 (GRCm39) |
L714P |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,952,085 (GRCm39) |
E585K |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,004,673 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,444,393 (GRCm39) |
C490S |
probably damaging |
Het |
| Mmp27 |
C |
T |
9: 7,578,985 (GRCm39) |
R387C |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,010,577 (GRCm39) |
D219V |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,487,904 (GRCm39) |
L407Q |
probably damaging |
Het |
| Nppa |
T |
A |
4: 148,085,638 (GRCm39) |
W82R |
probably damaging |
Het |
| Or10g6 |
T |
G |
9: 39,933,770 (GRCm39) |
L27R |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,532 (GRCm39) |
C244S |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,318 (GRCm39) |
N285S |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,179 (GRCm39) |
I1123L |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,661,831 (GRCm39) |
I695T |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,239,158 (GRCm39) |
M347L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,104,082 (GRCm39) |
C3296* |
probably null |
Het |
| Semp2l1 |
T |
A |
1: 32,586,005 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,930,756 (GRCm39) |
L611Q |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,634,251 (GRCm39) |
Q396* |
probably null |
Het |
| Taf2 |
A |
G |
15: 54,912,097 (GRCm39) |
F537L |
probably damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,046,898 (GRCm39) |
E451K |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tmem267 |
T |
A |
13: 120,070,774 (GRCm39) |
V143E |
probably damaging |
Het |
| Tyw1 |
C |
T |
5: 130,296,913 (GRCm39) |
R177W |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,985,993 (GRCm39) |
H340Q |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,182 (GRCm39) |
D533G |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,650,174 (GRCm39) |
C331S |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,100 (GRCm39) |
C332* |
probably null |
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 |
|
R2230:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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'- ATAGTCTGGGCCCTATCAGG -3'
(R):5'- TAGCTCTGCCTTGTTGAGC -3'
Sequencing Primer
(F):5'- AGGCCCCACTCTGAGGAAATG -3'
(R):5'- CTGCCTTGTTGAGCAGAGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation