Incidental Mutation 'IGL02506:Fam227b'
| ID |
296317 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam227b
|
| Ensembl Gene |
ENSMUSG00000027209 |
| Gene Name |
family with sequence similarity 227, member B |
| Synonyms |
4930525F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125983483-126152004 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126003911 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 386
(Y386F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110446
AA Change: Y386F
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: Y386F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
136 |
293 |
7.6e-54 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110448
AA Change: Y386F
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: Y386F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
136 |
293 |
3.8e-54 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178118
AA Change: Y386F
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: Y386F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
Pfam:FWWh
|
140 |
293 |
7.2e-50 |
PFAM |
|
coiled coil region
|
427 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
523 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,692,488 |
E189G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 104,091,732 |
|
probably null |
Het |
| Adcy7 |
G |
T |
8: 88,317,943 |
R488L |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,659,280 |
|
probably benign |
Het |
| Ano9 |
C |
T |
7: 141,102,254 |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 44,063,808 |
D182G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,452,399 |
V127D |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,429,129 |
M1407T |
probably damaging |
Het |
| Card9 |
A |
C |
2: 26,354,415 |
|
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,137,822 |
N472D |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,527,954 |
T343S |
probably benign |
Het |
| Cic |
T |
A |
7: 25,290,857 |
C1928S |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,754,644 |
W31* |
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,618,388 |
T489A |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,756,305 |
R431H |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,278,855 |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 88,729,590 |
T423A |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,799,388 |
I84N |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,829,785 |
N141D |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,157,281 |
L341Q |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,731,674 |
T53I |
possibly damaging |
Het |
| Fmn1 |
A |
T |
2: 113,525,295 |
T694S |
unknown |
Het |
| Gcnt2 |
T |
A |
13: 40,887,380 |
V5E |
probably benign |
Het |
| Herpud1 |
G |
T |
8: 94,394,642 |
E355* |
probably null |
Het |
| Igf1r |
T |
C |
7: 68,193,396 |
S752P |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,672,075 |
I687V |
possibly damaging |
Het |
| Kdm5a |
T |
C |
6: 120,432,149 |
S1598P |
probably damaging |
Het |
| Klk9 |
A |
G |
7: 43,795,639 |
E185G |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,390,217 |
R423L |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 31,967,154 |
E1609G |
probably damaging |
Het |
| Nom1 |
T |
A |
5: 29,439,816 |
|
probably benign |
Het |
| Nomo1 |
A |
G |
7: 46,078,056 |
I1040V |
possibly damaging |
Het |
| Olfr887 |
G |
A |
9: 38,085,445 |
G203D |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,560,695 |
V246A |
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 109,030,336 |
D437V |
probably benign |
Het |
| Phldb1 |
G |
T |
9: 44,710,926 |
D797E |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 109,647,500 |
E1399G |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,471,766 |
C97Y |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,489,991 |
I272L |
possibly damaging |
Het |
| Prlhr |
A |
C |
19: 60,467,928 |
Y67D |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,252,024 |
|
probably benign |
Het |
| Rad23b |
T |
C |
4: 55,382,511 |
V238A |
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,275,460 |
T164A |
possibly damaging |
Het |
| Serpinh1 |
T |
A |
7: 99,346,992 |
K295M |
probably damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,581,838 |
E770G |
probably benign |
Het |
| Spag4 |
T |
C |
2: 156,069,222 |
L390P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 7,035,489 |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,403,758 |
N50S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,741,594 |
V433A |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,369,211 |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,982,016 |
I572K |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,917,162 |
E3717D |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,444,406 |
N1778S |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,049,191 |
F1162Y |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,265,237 |
F552I |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,776,466 |
I811V |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,353,951 |
V116D |
probably benign |
Het |
|
| Other mutations in Fam227b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Fam227b
|
APN |
2 |
126,144,325 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00970:Fam227b
|
APN |
2 |
126,127,060 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02040:Fam227b
|
APN |
2 |
126,121,084 (GRCm38) |
splice site |
probably benign |
|
|
IGL02095:Fam227b
|
APN |
2 |
126,101,004 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02352:Fam227b
|
APN |
2 |
126,146,254 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02359:Fam227b
|
APN |
2 |
126,146,254 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02717:Fam227b
|
APN |
2 |
126,003,843 (GRCm38) |
missense |
probably null |
0.97 |
|
IGL02933:Fam227b
|
APN |
2 |
126,123,988 (GRCm38) |
splice site |
probably null |
|
|
IGL03064:Fam227b
|
APN |
2 |
126,126,842 (GRCm38) |
splice site |
probably null |
|
|
IGL03086:Fam227b
|
APN |
2 |
126,119,031 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03198:Fam227b
|
APN |
2 |
126,124,579 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03256:Fam227b
|
APN |
2 |
125,989,003 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03368:Fam227b
|
APN |
2 |
126,119,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
dana
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0071:Fam227b
|
UTSW |
2 |
126,124,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0071:Fam227b
|
UTSW |
2 |
126,124,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0110:Fam227b
|
UTSW |
2 |
126,100,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Fam227b
|
UTSW |
2 |
126,124,603 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0377:Fam227b
|
UTSW |
2 |
126,125,000 (GRCm38) |
splice site |
probably benign |
|
|
R0499:Fam227b
|
UTSW |
2 |
126,100,909 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1240:Fam227b
|
UTSW |
2 |
126,124,585 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1356:Fam227b
|
UTSW |
2 |
126,119,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1404:Fam227b
|
UTSW |
2 |
126,003,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1404:Fam227b
|
UTSW |
2 |
126,003,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2055:Fam227b
|
UTSW |
2 |
126,100,954 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2884:Fam227b
|
UTSW |
2 |
126,100,926 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3124:Fam227b
|
UTSW |
2 |
126,124,086 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3125:Fam227b
|
UTSW |
2 |
126,124,086 (GRCm38) |
missense |
probably benign |
0.36 |
|
R3937:Fam227b
|
UTSW |
2 |
126,127,060 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4408:Fam227b
|
UTSW |
2 |
126,116,125 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4454:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4455:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4457:Fam227b
|
UTSW |
2 |
126,146,268 (GRCm38) |
unclassified |
probably benign |
|
|
R4558:Fam227b
|
UTSW |
2 |
126,127,043 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4661:Fam227b
|
UTSW |
2 |
126,007,310 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4809:Fam227b
|
UTSW |
2 |
126,116,125 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4810:Fam227b
|
UTSW |
2 |
125,987,939 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4989:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5011:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5013:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5014:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5133:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5184:Fam227b
|
UTSW |
2 |
126,116,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5431:Fam227b
|
UTSW |
2 |
126,126,931 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5797:Fam227b
|
UTSW |
2 |
126,007,334 (GRCm38) |
missense |
probably benign |
|
|
R6056:Fam227b
|
UTSW |
2 |
126,121,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6218:Fam227b
|
UTSW |
2 |
126,126,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Fam227b
|
UTSW |
2 |
126,121,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6660:Fam227b
|
UTSW |
2 |
126,144,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6734:Fam227b
|
UTSW |
2 |
126,126,976 (GRCm38) |
nonsense |
probably null |
|
|
R7136:Fam227b
|
UTSW |
2 |
126,124,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7410:Fam227b
|
UTSW |
2 |
126,119,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8417:Fam227b
|
UTSW |
2 |
126,121,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8679:Fam227b
|
UTSW |
2 |
125,989,008 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8731:Fam227b
|
UTSW |
2 |
126,126,978 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8986:Fam227b
|
UTSW |
2 |
126,116,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation