Incidental Mutation 'R2301:Fam222b'
ID |
244429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam222b
|
Ensembl Gene |
ENSMUSG00000037750 |
Gene Name |
family with sequence similarity 222, member B |
Synonyms |
BC017647 |
MMRRC Submission |
040300-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.314)
|
Stock # |
R2301 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77985486-78047526 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78045369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 310
(V310A)
|
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 damaging
Transcript: ENSMUST00000073705
AA Change: V310A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073384 Gene: ENSMUSG00000037750 AA Change: V310A
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
5.6e-233 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100782
AA Change: V182A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126620 Gene: ENSMUSG00000037750 AA Change: V182A
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
1 |
434 |
1.9e-157 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149437
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155571
AA Change: V310A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121832 Gene: ENSMUSG00000037750 AA Change: V310A
Domain | Start | End | E-Value | Type |
Pfam:FAM222A
|
27 |
562 |
3.2e-259 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
Chst13 |
A |
T |
6: 90,295,271 (GRCm39) |
S47R |
probably damaging |
Het |
Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
Polk |
T |
C |
13: 96,620,652 (GRCm39) |
E516G |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
Traf5 |
T |
C |
1: 191,729,926 (GRCm39) |
N375S |
probably benign |
Het |
Tti2 |
T |
C |
8: 31,645,823 (GRCm39) |
V379A |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
probably benign |
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 |
|
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'- GACCGTGTCTACCTCAACTATC -3'
(R):5'- TCTGTTGTAGGTGAGCCAGC -3'
Sequencing Primer
(F):5'- AACTATCCCCCTTTCAATGGCGG -3'
(R):5'- CTGGTGCTGGTTCCAGGTAAC -3'
|
Posted On |
2014-10-30 |