Incidental Mutation 'R5431:Fam227b'
ID |
428034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227b
|
Ensembl Gene |
ENSMUSG00000027209 |
Gene Name |
family with sequence similarity 227, member B |
Synonyms |
4930525F21Rik |
MMRRC Submission |
042847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125825403-125993924 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 125968851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 74
(L74F)
|
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: L74F
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106076 Gene: ENSMUSG00000027209 AA Change: L74F
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: L74F
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106078 Gene: ENSMUSG00000027209 AA Change: L74F
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: L74F
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000136349 Gene: ENSMUSG00000027209 AA Change: L74F
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,195,928 (GRCm39) |
T300S |
probably damaging |
Het |
BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
Hdac4 |
T |
A |
1: 91,900,512 (GRCm39) |
R54* |
probably null |
Het |
Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
Micu1 |
T |
C |
10: 59,586,343 (GRCm39) |
Y140H |
possibly damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,746,324 (GRCm39) |
D511G |
possibly damaging |
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 |
|
IGL03256:Fam227b
|
APN |
2 |
125,830,923 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATGAGAATACACATAGAGCAAGC -3'
(R):5'- GGTCCCCTAAGGCTTTTGATTATTCG -3'
Sequencing Primer
(F):5'- TAGAGCAAGCATACATAGACAGAC -3'
(R):5'- TTATTGGCCCAGGGATGT -3'
|
Posted On |
2016-09-01 |