Incidental Mutation 'IGL03256:Fam227b'
| ID |
414638 |
| 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: 0.087)
|
| Stock # |
IGL03256
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125830923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 427
(K427I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000110446]
[ENSMUST00000110448]
[ENSMUST00000178118]
|
| AlphaFold |
Q9D518 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
13 |
62 |
3.8e-26 |
PFAM |
|
Pfam:GHMP_kinases_N
|
120 |
187 |
1e-15 |
PFAM |
|
Pfam:GHMP_kinases_C
|
333 |
419 |
6.9e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110446
AA Change: K427I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: K427I
| 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 damaging
Transcript: ENSMUST00000110448
AA Change: K427I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: K427I
| 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 |
probably damaging
Transcript: ENSMUST00000178118
AA Change: K427I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: K427I
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
T |
8: 73,199,043 (GRCm39) |
T150I |
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,291,280 (GRCm39) |
N333D |
probably benign |
Het |
| Aifm3 |
G |
A |
16: 17,324,174 (GRCm39) |
R578Q |
probably benign |
Het |
| Arid2 |
C |
A |
15: 96,268,643 (GRCm39) |
Q919K |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,931,451 (GRCm39) |
|
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,083 (GRCm39) |
T599S |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,960,832 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,409,299 (GRCm39) |
R601W |
probably damaging |
Het |
| Clca3a2 |
A |
C |
3: 144,792,153 (GRCm39) |
S369R |
possibly damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,557,182 (GRCm39) |
V795G |
possibly damaging |
Het |
| Ddb1 |
A |
G |
19: 10,599,225 (GRCm39) |
T544A |
probably benign |
Het |
| Defb43 |
T |
C |
14: 63,255,329 (GRCm39) |
I54T |
probably damaging |
Het |
| Dera |
A |
G |
6: 137,756,643 (GRCm39) |
M89V |
probably benign |
Het |
| Frk |
A |
G |
10: 34,483,838 (GRCm39) |
I400V |
probably benign |
Het |
| Gk5 |
T |
A |
9: 96,011,106 (GRCm39) |
L72H |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,445 (GRCm39) |
Y133F |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,455,069 (GRCm39) |
L662P |
probably damaging |
Het |
| Hecw1 |
G |
T |
13: 14,455,070 (GRCm39) |
L662M |
probably benign |
Het |
| Il12b |
T |
A |
11: 44,298,757 (GRCm39) |
S71T |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,395,538 (GRCm39) |
|
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Magel2 |
C |
A |
7: 62,030,162 (GRCm39) |
T1022K |
unknown |
Het |
| Mycbp2 |
C |
A |
14: 103,426,025 (GRCm39) |
V2367F |
possibly damaging |
Het |
| Nap1l3 |
C |
T |
X: 121,305,905 (GRCm39) |
G271D |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,689,117 (GRCm39) |
D346E |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,121,613 (GRCm39) |
E435D |
probably damaging |
Het |
| Nfam1 |
C |
T |
15: 82,894,611 (GRCm39) |
G205R |
probably benign |
Het |
| Or10aa1 |
T |
C |
1: 173,869,774 (GRCm39) |
L86P |
probably damaging |
Het |
| Or1e35 |
A |
T |
11: 73,797,522 (GRCm39) |
N265K |
probably benign |
Het |
| Or5b118 |
T |
A |
19: 13,448,631 (GRCm39) |
M99K |
probably damaging |
Het |
| Otud3 |
G |
A |
4: 138,636,928 (GRCm39) |
R78W |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,758 (GRCm39) |
A208T |
probably damaging |
Het |
| Pcdh11x |
A |
T |
X: 119,310,607 (GRCm39) |
E683D |
probably benign |
Het |
| Phtf2 |
C |
A |
5: 21,008,250 (GRCm39) |
V144L |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,311 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,942,445 (GRCm39) |
D459V |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,302,632 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
A |
C |
11: 54,548,255 (GRCm39) |
Q813P |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,328,211 (GRCm39) |
D1071V |
possibly damaging |
Het |
| Sctr |
T |
C |
1: 119,959,289 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
G |
3: 75,526,481 (GRCm39) |
I244M |
probably benign |
Het |
| Tada2a |
C |
A |
11: 83,978,018 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,352,092 (GRCm39) |
H112Q |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,907,694 (GRCm39) |
L1246Q |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,389,353 (GRCm39) |
N449S |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,370,090 (GRCm39) |
Y1771* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Virma |
T |
C |
4: 11,542,207 (GRCm39) |
|
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,698 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fam227b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Fam227b
|
APN |
2 |
125,986,245 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00970:Fam227b
|
APN |
2 |
125,968,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02040:Fam227b
|
APN |
2 |
125,963,004 (GRCm39) |
splice site |
probably benign |
|
|
IGL02095:Fam227b
|
APN |
2 |
125,942,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02352:Fam227b
|
APN |
2 |
125,988,174 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02359:Fam227b
|
APN |
2 |
125,988,174 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02506:Fam227b
|
APN |
2 |
125,845,831 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02717:Fam227b
|
APN |
2 |
125,845,763 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02933:Fam227b
|
APN |
2 |
125,965,908 (GRCm39) |
splice site |
probably null |
|
|
IGL03064:Fam227b
|
APN |
2 |
125,968,762 (GRCm39) |
splice site |
probably null |
|
|
IGL03086:Fam227b
|
APN |
2 |
125,960,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03198:Fam227b
|
APN |
2 |
125,966,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03368:Fam227b
|
APN |
2 |
125,960,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dana
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Fam227b
|
UTSW |
2 |
125,965,994 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0071:Fam227b
|
UTSW |
2 |
125,965,994 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0110:Fam227b
|
UTSW |
2 |
125,942,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Fam227b
|
UTSW |
2 |
125,966,523 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0377:Fam227b
|
UTSW |
2 |
125,966,920 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Fam227b
|
UTSW |
2 |
125,942,829 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1240:Fam227b
|
UTSW |
2 |
125,966,505 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1356:Fam227b
|
UTSW |
2 |
125,960,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Fam227b
|
UTSW |
2 |
125,845,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1404:Fam227b
|
UTSW |
2 |
125,845,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2055:Fam227b
|
UTSW |
2 |
125,942,874 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2884:Fam227b
|
UTSW |
2 |
125,942,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3124:Fam227b
|
UTSW |
2 |
125,966,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3125:Fam227b
|
UTSW |
2 |
125,966,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3937:Fam227b
|
UTSW |
2 |
125,968,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4408:Fam227b
|
UTSW |
2 |
125,958,045 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4454:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4455:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4457:Fam227b
|
UTSW |
2 |
125,988,188 (GRCm39) |
unclassified |
probably benign |
|
|
R4558:Fam227b
|
UTSW |
2 |
125,968,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4661:Fam227b
|
UTSW |
2 |
125,849,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4809:Fam227b
|
UTSW |
2 |
125,958,045 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4810:Fam227b
|
UTSW |
2 |
125,829,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4989:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Fam227b
|
UTSW |
2 |
125,958,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Fam227b
|
UTSW |
2 |
125,968,851 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5797:Fam227b
|
UTSW |
2 |
125,849,254 (GRCm39) |
missense |
probably benign |
|
|
R6056:Fam227b
|
UTSW |
2 |
125,962,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Fam227b
|
UTSW |
2 |
125,968,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Fam227b
|
UTSW |
2 |
125,962,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Fam227b
|
UTSW |
2 |
125,986,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam227b
|
UTSW |
2 |
125,968,896 (GRCm39) |
nonsense |
probably null |
|
|
R7136:Fam227b
|
UTSW |
2 |
125,965,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7410:Fam227b
|
UTSW |
2 |
125,960,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8417:Fam227b
|
UTSW |
2 |
125,962,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Fam227b
|
UTSW |
2 |
125,830,928 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8731:Fam227b
|
UTSW |
2 |
125,968,898 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8986:Fam227b
|
UTSW |
2 |
125,958,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation