Incidental Mutation 'R5225:Fam227a'
ID |
402581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227a
|
Ensembl Gene |
ENSMUSG00000042564 |
Gene Name |
family with sequence similarity 227, member A |
Synonyms |
4933432B09Rik |
MMRRC Submission |
042798-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5225 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79520936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 296
(D296G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109646]
[ENSMUST00000109648]
[ENSMUST00000187519]
[ENSMUST00000191401]
[ENSMUST00000229064]
[ENSMUST00000230366]
|
AlphaFold |
Q9D3V8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046816
|
SMART Domains |
Protein: ENSMUSP00000048277 Gene: ENSMUSG00000042564
Domain | Start | End | E-Value | Type |
Pfam:FWWh
|
128 |
242 |
6.3e-32 |
PFAM |
|
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: D300G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105275 Gene: ENSMUSG00000042564 AA Change: D300G
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: D300G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139524 Gene: ENSMUSG00000042564 AA Change: D300G
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: D296G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230366
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230475
|
Meta Mutation Damage Score |
0.1569 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
C |
T |
17: 9,226,839 (GRCm39) |
R465* |
probably null |
Het |
Abcg3 |
A |
T |
5: 105,114,649 (GRCm39) |
D289E |
probably damaging |
Het |
Ablim2 |
G |
T |
5: 36,024,115 (GRCm39) |
|
probably null |
Het |
Acp1 |
A |
T |
12: 30,955,078 (GRCm39) |
V36D |
probably benign |
Het |
Adgrb1 |
T |
A |
15: 74,449,348 (GRCm39) |
|
probably benign |
Het |
Akap6 |
G |
A |
12: 52,933,329 (GRCm39) |
V274I |
probably damaging |
Het |
Arhgap39 |
T |
C |
15: 76,609,715 (GRCm39) |
|
probably benign |
Het |
Bmp1 |
G |
A |
14: 70,717,605 (GRCm39) |
R789W |
probably damaging |
Het |
Catspere2 |
A |
T |
1: 177,976,474 (GRCm39) |
|
probably benign |
Het |
Cfhr2 |
T |
A |
1: 139,749,520 (GRCm39) |
Y154F |
possibly damaging |
Het |
Cilp2 |
T |
C |
8: 70,336,015 (GRCm39) |
Y358C |
probably damaging |
Het |
Cyp1a2 |
T |
A |
9: 57,584,516 (GRCm39) |
K513* |
probably null |
Het |
Dennd4a |
G |
T |
9: 64,796,210 (GRCm39) |
K745N |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,655,085 (GRCm39) |
S542T |
probably benign |
Het |
Dmbt1 |
A |
T |
7: 130,696,465 (GRCm39) |
I893F |
possibly damaging |
Het |
Dnhd1 |
A |
T |
7: 105,353,130 (GRCm39) |
E2761V |
possibly damaging |
Het |
F11 |
T |
C |
8: 45,708,341 (GRCm39) |
T40A |
probably benign |
Het |
Fance |
C |
T |
17: 28,534,589 (GRCm39) |
|
probably benign |
Het |
Gaa |
A |
G |
11: 119,167,669 (GRCm39) |
D149G |
probably damaging |
Het |
Gapt |
A |
G |
13: 110,490,522 (GRCm39) |
M47T |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,813,774 (GRCm39) |
N202D |
probably damaging |
Het |
Gm7535 |
T |
C |
17: 18,131,809 (GRCm39) |
|
probably benign |
Het |
Gm973 |
T |
A |
1: 59,601,859 (GRCm39) |
M491K |
probably benign |
Het |
Gmnc |
A |
G |
16: 26,782,695 (GRCm39) |
V27A |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,440,915 (GRCm39) |
T1167A |
possibly damaging |
Het |
Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
Lime1 |
T |
A |
2: 181,024,640 (GRCm39) |
M98K |
probably benign |
Het |
Lrp1 |
C |
A |
10: 127,391,965 (GRCm39) |
A2867S |
probably benign |
Het |
Lrrd1 |
G |
A |
5: 3,908,735 (GRCm39) |
S669N |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,976,456 (GRCm39) |
N520S |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,198,535 (GRCm39) |
L206V |
probably damaging |
Het |
Nagpa |
C |
T |
16: 5,021,596 (GRCm39) |
A52T |
probably benign |
Het |
Or1o3 |
A |
G |
17: 37,573,919 (GRCm39) |
V212A |
probably benign |
Het |
Or4c3 |
T |
G |
2: 89,851,528 (GRCm39) |
D294A |
probably benign |
Het |
Orai2 |
A |
G |
5: 136,190,355 (GRCm39) |
S71P |
probably damaging |
Het |
Pcbp1 |
A |
T |
6: 86,502,209 (GRCm39) |
I230N |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,138,986 (GRCm39) |
L349P |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,613,011 (GRCm39) |
V657A |
probably benign |
Het |
Prdm15 |
G |
T |
16: 97,609,875 (GRCm39) |
H590N |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,079,874 (GRCm39) |
I442M |
probably damaging |
Het |
Pygm |
C |
A |
19: 6,439,494 (GRCm39) |
D279E |
probably benign |
Het |
Rrn3 |
T |
A |
16: 13,610,798 (GRCm39) |
|
probably null |
Het |
Sass6 |
T |
C |
3: 116,407,702 (GRCm39) |
S273P |
possibly damaging |
Het |
Schip1 |
A |
G |
3: 68,402,270 (GRCm39) |
M116V |
probably benign |
Het |
Sdc3 |
G |
A |
4: 130,546,087 (GRCm39) |
V55I |
unknown |
Het |
Serpinb8 |
T |
A |
1: 107,525,201 (GRCm39) |
M1K |
probably null |
Het |
Slc24a5 |
T |
C |
2: 124,927,739 (GRCm39) |
I346T |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,117,846 (GRCm39) |
I335N |
probably damaging |
Het |
Snapc2 |
T |
A |
8: 4,305,299 (GRCm39) |
V147E |
probably damaging |
Het |
Snx2 |
T |
C |
18: 53,322,784 (GRCm39) |
S56P |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Stk19 |
A |
T |
17: 35,040,400 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
G |
1: 12,911,702 (GRCm39) |
E692G |
probably benign |
Het |
Tet1 |
C |
T |
10: 62,674,450 (GRCm39) |
V1209I |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,539,406 (GRCm39) |
T1639A |
probably benign |
Het |
Tmem135 |
G |
T |
7: 88,845,335 (GRCm39) |
Y165* |
probably null |
Het |
Tmprss6 |
T |
C |
15: 78,336,707 (GRCm39) |
T398A |
probably damaging |
Het |
Ube4a |
C |
T |
9: 44,851,258 (GRCm39) |
|
probably null |
Het |
Vmn1r227 |
T |
C |
17: 20,955,499 (GRCm39) |
|
noncoding transcript |
Het |
Wdhd1 |
T |
C |
14: 47,488,273 (GRCm39) |
S745G |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,191,263 (GRCm39) |
H353R |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,298,980 (GRCm39) |
T539A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,218,091 (GRCm39) |
F510I |
possibly 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 |
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 |
|
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'- TGGTGGCCAGTTTGAAAGTC -3'
(R):5'- GGTGAACAAACCCTCTAGAGAG -3'
Sequencing Primer
(F):5'- TGGCCAGTTTGAAAGTCTGAGAG -3'
(R):5'- CAAGGCCAGGACAACGCTG -3'
|
Posted On |
2016-07-22 |