Incidental Mutation 'R8175:Fam227a'
ID |
634312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227a
|
Ensembl Gene |
ENSMUSG00000042564 |
Gene Name |
family with sequence similarity 227, member A |
Synonyms |
4933432B09Rik |
MMRRC Submission |
067600-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R8175 (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 79524861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 201
(F201S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109646]
[ENSMUST00000109648]
[ENSMUST00000187519]
[ENSMUST00000191401]
|
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 |
probably damaging
Transcript: ENSMUST00000109648
AA Change: F201S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105275 Gene: ENSMUSG00000042564 AA Change: F201S
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 |
probably damaging
Transcript: ENSMUST00000187519
AA Change: F201S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139524 Gene: ENSMUSG00000042564 AA Change: F201S
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
C |
T |
9: 30,815,952 (GRCm39) |
V635M |
probably damaging |
Het |
Aim2 |
A |
T |
1: 173,282,920 (GRCm39) |
M1L |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,729,339 (GRCm39) |
V700A |
unknown |
Het |
Arhgap10 |
T |
C |
8: 78,037,471 (GRCm39) |
T586A |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,849,455 (GRCm39) |
V349I |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,492,170 (GRCm39) |
F569L |
possibly damaging |
Het |
Btbd10 |
T |
A |
7: 112,921,999 (GRCm39) |
|
probably null |
Het |
Capza2 |
G |
A |
6: 17,665,381 (GRCm39) |
D270N |
probably benign |
Het |
Cobll1 |
T |
C |
2: 64,929,575 (GRCm39) |
N584D |
probably benign |
Het |
Coro1c |
T |
A |
5: 113,988,876 (GRCm39) |
I156F |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,350,178 (GRCm39) |
I299T |
probably benign |
Het |
Cse1l |
T |
A |
2: 166,785,128 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
T |
C |
5: 36,772,814 (GRCm39) |
E527G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,253,710 (GRCm39) |
L149S |
possibly damaging |
Het |
Ecpas |
C |
T |
4: 58,872,756 (GRCm39) |
V182M |
probably damaging |
Het |
Egflam |
C |
A |
15: 7,241,633 (GRCm39) |
W925L |
probably damaging |
Het |
Ehmt2 |
A |
G |
17: 35,130,396 (GRCm39) |
N1071D |
probably damaging |
Het |
Eif3g |
A |
T |
9: 20,809,026 (GRCm39) |
S93T |
probably damaging |
Het |
Eipr1 |
A |
G |
12: 28,913,106 (GRCm39) |
E269G |
|
Het |
Eng |
C |
A |
2: 32,568,934 (GRCm39) |
T487K |
possibly damaging |
Het |
Epb41l3 |
T |
C |
17: 69,517,361 (GRCm39) |
Y130H |
probably damaging |
Het |
F5 |
A |
T |
1: 164,019,834 (GRCm39) |
R770* |
probably null |
Het |
Fam50b |
G |
A |
13: 34,930,847 (GRCm39) |
E108K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,863,873 (GRCm39) |
C2548* |
probably null |
Het |
Fn1 |
A |
G |
1: 71,638,824 (GRCm39) |
I1971T |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,088 (GRCm39) |
F3607Y |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,021 (GRCm39) |
I4585L |
probably benign |
Het |
Gas1 |
T |
C |
13: 60,323,932 (GRCm39) |
N275S |
|
Het |
Hus1b |
A |
G |
13: 31,131,215 (GRCm39) |
V148A |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,316,365 (GRCm39) |
L575P |
possibly damaging |
Het |
Igsf21 |
A |
T |
4: 139,755,542 (GRCm39) |
F371Y |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,488,496 (GRCm39) |
R860G |
probably damaging |
Het |
Jade1 |
G |
T |
3: 41,567,723 (GRCm39) |
R597L |
probably benign |
Het |
Krt4 |
A |
G |
15: 101,828,984 (GRCm39) |
|
probably null |
Het |
Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
Lifr |
A |
G |
15: 7,216,496 (GRCm39) |
T824A |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,353,076 (GRCm39) |
C1307* |
probably null |
Het |
Ndufb10 |
A |
T |
17: 24,943,166 (GRCm39) |
V48E |
possibly damaging |
Het |
Nelfa |
T |
C |
5: 34,079,357 (GRCm39) |
K72R |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,886,786 (GRCm39) |
V7767I |
unknown |
Het |
Pptc7 |
T |
A |
5: 122,457,882 (GRCm39) |
C284S |
probably benign |
Het |
Pxdc1 |
A |
G |
13: 34,812,798 (GRCm39) |
S218P |
probably damaging |
Het |
Rabep1 |
T |
A |
11: 70,775,755 (GRCm39) |
W110R |
probably damaging |
Het |
Ren1 |
T |
C |
1: 133,282,007 (GRCm39) |
Y79H |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,679 (GRCm39) |
S760G |
probably benign |
Het |
Setd1a |
A |
G |
7: 127,395,415 (GRCm39) |
E1327G |
unknown |
Het |
Setd5 |
T |
C |
6: 113,091,874 (GRCm39) |
W232R |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,260,790 (GRCm39) |
H171Q |
probably damaging |
Het |
Smoc1 |
A |
G |
12: 81,214,440 (GRCm39) |
D285G |
probably damaging |
Het |
Taf10 |
T |
C |
7: 105,393,134 (GRCm39) |
Y97C |
probably damaging |
Het |
Tgfbr2 |
G |
A |
9: 115,939,023 (GRCm39) |
S293L |
possibly damaging |
Het |
Tmem181a |
A |
G |
17: 6,346,075 (GRCm39) |
I190V |
probably benign |
Het |
Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,435,973 (GRCm39) |
N716D |
probably benign |
Het |
Unc5d |
T |
A |
8: 29,334,855 (GRCm39) |
K157N |
probably damaging |
Het |
Usp19 |
G |
A |
9: 108,377,377 (GRCm39) |
R1255H |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,238,349 (GRCm39) |
I464F |
probably damaging |
Het |
Zbtb20 |
A |
T |
16: 43,397,443 (GRCm39) |
|
probably benign |
Het |
Zfp790 |
T |
G |
7: 29,529,205 (GRCm39) |
L630R |
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 |
|
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 |
|
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'- AGAGACTGTCTATTCAAGCGC -3'
(R):5'- TGCCACAGTGAAACCCTGTC -3'
Sequencing Primer
(F):5'- GGTTATACCCGAAGTTCAGGTACAC -3'
(R):5'- GTGAAACCCTGTCTTGAACAAG -3'
|
Posted On |
2020-07-13 |