Incidental Mutation 'R4003:Fam222b'
ID |
311355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam222b
|
Ensembl Gene |
ENSMUSG00000037750 |
Gene Name |
family with sequence similarity 222, member B |
Synonyms |
BC017647 |
MMRRC Submission |
040945-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
R4003 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77985486-78047526 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 78045755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 439
(P439S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017530]
[ENSMUST00000073705]
[ENSMUST00000100782]
[ENSMUST00000155571]
|
AlphaFold |
Q6P539 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017530
|
SMART Domains |
Protein: ENSMUSP00000017530 Gene: ENSMUSG00000017386
Domain | Start | End | E-Value | Type |
RING
|
18 |
57 |
1.41e-4 |
SMART |
Pfam:zf-TRAF
|
102 |
156 |
3.4e-19 |
PFAM |
Pfam:zf-TRAF
|
156 |
210 |
4e-12 |
PFAM |
Pfam:zf-TRAF
|
210 |
269 |
4.2e-23 |
PFAM |
low complexity region
|
287 |
302 |
N/A |
INTRINSIC |
MATH
|
312 |
445 |
1.04e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073705
AA Change: P439S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000073384 Gene: ENSMUSG00000037750 AA Change: P439S
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
5.6e-233 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100782
AA Change: P311S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126620 Gene: ENSMUSG00000037750 AA Change: P311S
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
1 |
434 |
1.9e-157 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155571
AA Change: P439S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121832 Gene: ENSMUSG00000037750 AA Change: P439S
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
3.2e-259 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
T |
7: 143,451,040 (GRCm39) |
M350L |
probably benign |
Het |
Adgrf4 |
A |
T |
17: 42,980,650 (GRCm39) |
I145N |
probably damaging |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Bmp8b |
T |
A |
4: 123,015,671 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
Cerkl |
C |
A |
2: 79,259,138 (GRCm39) |
R33L |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
Csnk2a1 |
A |
G |
2: 152,092,495 (GRCm39) |
E22G |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,720,977 (GRCm39) |
K2834E |
probably damaging |
Het |
Eftud2 |
C |
T |
11: 102,750,936 (GRCm39) |
E286K |
possibly damaging |
Het |
Elapor2 |
A |
C |
5: 9,490,877 (GRCm39) |
E629A |
probably benign |
Het |
Gsn |
A |
G |
2: 35,173,995 (GRCm39) |
K35E |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,844 (GRCm39) |
Q358H |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,131,890 (GRCm39) |
D14G |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,899 (GRCm39) |
I1263T |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
Mylk |
C |
A |
16: 34,783,947 (GRCm39) |
A1371D |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,838,689 (GRCm39) |
|
probably null |
Het |
Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,650 (GRCm39) |
|
probably null |
Het |
Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,408,037 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
T |
A |
11: 70,808,193 (GRCm39) |
M340K |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,034 (GRCm39) |
D1945G |
probably null |
Het |
Slc22a2 |
A |
T |
17: 12,831,337 (GRCm39) |
I376F |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,550,474 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
C |
4: 52,462,897 (GRCm39) |
V629A |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,693,988 (GRCm39) |
D633E |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,341,959 (GRCm39) |
V78M |
probably damaging |
Het |
Tnfaip2 |
C |
T |
12: 111,417,778 (GRCm39) |
|
probably benign |
Het |
Tnfrsf25 |
T |
C |
4: 152,204,058 (GRCm39) |
M333T |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,844,177 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,698,870 (GRCm39) |
C70* |
probably null |
Het |
Zfp384 |
T |
C |
6: 125,010,200 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
A |
G |
7: 39,186,730 (GRCm39) |
E920G |
possibly damaging |
Het |
Zhx3 |
G |
A |
2: 160,622,809 (GRCm39) |
P453S |
probably damaging |
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 |
R0478:Fam222b
|
UTSW |
11 |
78,044,682 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TACAACAGATGTGCAGCGAG -3'
(R):5'- CCGTTTGCATCAAGCTGTTC -3'
Sequencing Primer
(F):5'- ATGTGCAGCGAGGCCGG -3'
(R):5'- AAGCTGTTCTGGCTTGCCAC -3'
|
Posted On |
2015-04-29 |