Incidental Mutation 'R0478:Fam222b'
ID |
43209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam222b
|
Ensembl Gene |
ENSMUSG00000037750 |
Gene Name |
family with sequence similarity 222, member B |
Synonyms |
BC017647 |
MMRRC Submission |
038678-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
R0478 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77985486-78047526 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78044682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 81
(L81P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073705]
[ENSMUST00000100782]
[ENSMUST00000155571]
|
AlphaFold |
Q6P539 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073705
AA Change: L81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073384 Gene: ENSMUSG00000037750 AA Change: L81P
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
5.6e-233 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100782
|
SMART Domains |
Protein: ENSMUSP00000126620 Gene: ENSMUSG00000037750
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
1 |
434 |
1.9e-157 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155571
AA Change: L81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121832 Gene: ENSMUSG00000037750 AA Change: L81P
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
3.2e-259 |
PFAM |
|
Meta Mutation Damage Score |
0.5775 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
Het |
|
Other mutations in Fam222b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01073:Fam222b
|
APN |
11 |
78,045,314 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01948:Fam222b
|
APN |
11 |
78,045,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Fam222b
|
APN |
11 |
78,044,934 (GRCm39) |
missense |
probably benign |
0.44 |
H8562:Fam222b
|
UTSW |
11 |
78,045,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R0087:Fam222b
|
UTSW |
11 |
78,044,718 (GRCm39) |
missense |
probably benign |
0.23 |
R0385:Fam222b
|
UTSW |
11 |
78,045,756 (GRCm39) |
missense |
probably benign |
0.01 |
R1565:Fam222b
|
UTSW |
11 |
78,045,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1586:Fam222b
|
UTSW |
11 |
78,045,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Fam222b
|
UTSW |
11 |
78,045,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Fam222b
|
UTSW |
11 |
78,045,861 (GRCm39) |
missense |
probably damaging |
0.96 |
R1878:Fam222b
|
UTSW |
11 |
78,034,042 (GRCm39) |
critical splice donor site |
probably null |
|
R2301:Fam222b
|
UTSW |
11 |
78,045,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R3120:Fam222b
|
UTSW |
11 |
78,044,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R3915:Fam222b
|
UTSW |
11 |
78,045,756 (GRCm39) |
missense |
probably benign |
0.26 |
R4003:Fam222b
|
UTSW |
11 |
78,045,755 (GRCm39) |
missense |
probably benign |
0.13 |
R4748:Fam222b
|
UTSW |
11 |
78,045,429 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4982:Fam222b
|
UTSW |
11 |
78,045,569 (GRCm39) |
missense |
probably damaging |
0.98 |
R5307:Fam222b
|
UTSW |
11 |
78,044,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Fam222b
|
UTSW |
11 |
78,045,858 (GRCm39) |
missense |
probably benign |
0.16 |
R5618:Fam222b
|
UTSW |
11 |
78,045,066 (GRCm39) |
missense |
probably benign |
0.05 |
R7181:Fam222b
|
UTSW |
11 |
78,045,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R7199:Fam222b
|
UTSW |
11 |
78,045,683 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7285:Fam222b
|
UTSW |
11 |
78,034,007 (GRCm39) |
missense |
probably benign |
0.04 |
R7467:Fam222b
|
UTSW |
11 |
78,045,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Fam222b
|
UTSW |
11 |
78,044,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7804:Fam222b
|
UTSW |
11 |
78,044,979 (GRCm39) |
missense |
probably benign |
0.00 |
R7941:Fam222b
|
UTSW |
11 |
78,045,885 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9099:Fam222b
|
UTSW |
11 |
78,046,020 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGTCCATGAGAACCGGCTACAC -3'
(R):5'- TTCATGATGGCCTCAGGGAGGAAC -3'
Sequencing Primer
(F):5'- tctccttccctctctttctctc -3'
(R):5'- CTCAGGGAGGAACCGAGC -3'
|
Posted On |
2013-05-23 |