Incidental Mutation 'R2413:F830016B08Rik'
| ID |
250080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F830016B08Rik
|
| Ensembl Gene |
ENSMUSG00000090942 |
| Gene Name |
RIKEN cDNA F830016B08 gene |
| Synonyms |
Ifgga4 |
| MMRRC Submission |
040377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60426452-60436088 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 60433365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 149
(Y149*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171297]
|
| AlphaFold |
G3UWE2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000171297
AA Change: Y149*
|
| SMART Domains |
Protein: ENSMUSP00000131437
Gene: ENSMUSG00000090942
AA Change: Y149*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
35 |
405 |
1.1e-131 |
PFAM |
|
Pfam:ABC_tran
|
68 |
214 |
7.3e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
71 |
197 |
2.2e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,036,446 (GRCm39) |
A168S |
probably benign |
Het |
| Aspm |
A |
C |
1: 139,405,495 (GRCm39) |
I1461L |
probably damaging |
Het |
| Bcas3 |
C |
T |
11: 85,422,681 (GRCm39) |
L517F |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,024,924 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
C |
4: 155,503,081 (GRCm39) |
R24S |
possibly damaging |
Het |
| Clec1a |
T |
A |
6: 129,412,218 (GRCm39) |
S51C |
probably damaging |
Het |
| Cyp2c40 |
G |
T |
19: 39,792,331 (GRCm39) |
C204* |
probably null |
Het |
| Dgki |
C |
A |
6: 36,824,408 (GRCm39) |
R1040L |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,278,969 (GRCm39) |
T565S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,064,290 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
G |
A |
10: 6,885,225 (GRCm39) |
P92S |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,603 (GRCm39) |
I92F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,902,212 (GRCm39) |
T285I |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,728,657 (GRCm39) |
N32K |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,851,662 (GRCm39) |
|
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,166,484 (GRCm39) |
T277A |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,467,924 (GRCm39) |
Y1331N |
probably benign |
Het |
| Neb |
C |
A |
2: 52,100,644 (GRCm39) |
W4422L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,523,243 (GRCm39) |
S1019P |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,792 (GRCm39) |
E354G |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,022,226 (GRCm39) |
R427L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,634,009 (GRCm39) |
S121P |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,437 (GRCm39) |
D262V |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,967,485 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,376,572 (GRCm39) |
E129G |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,896,643 (GRCm39) |
L444P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,078,849 (GRCm39) |
P217T |
probably damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,871 (GRCm39) |
L188P |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,640 (GRCm39) |
M326V |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,252 (GRCm39) |
T2900A |
probably damaging |
Het |
|
| Other mutations in F830016B08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:F830016B08Rik
|
APN |
18 |
60,433,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:F830016B08Rik
|
APN |
18 |
60,433,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4342:F830016B08Rik
|
UTSW |
18 |
60,433,013 (GRCm39) |
small insertion |
probably benign |
|
|
R0172:F830016B08Rik
|
UTSW |
18 |
60,433,036 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0375:F830016B08Rik
|
UTSW |
18 |
60,433,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:F830016B08Rik
|
UTSW |
18 |
60,433,970 (GRCm39) |
nonsense |
probably null |
|
|
R1791:F830016B08Rik
|
UTSW |
18 |
60,433,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2696:F830016B08Rik
|
UTSW |
18 |
60,433,808 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3607:F830016B08Rik
|
UTSW |
18 |
60,433,780 (GRCm39) |
nonsense |
probably null |
|
|
R4612:F830016B08Rik
|
UTSW |
18 |
60,434,087 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4621:F830016B08Rik
|
UTSW |
18 |
60,433,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4752:F830016B08Rik
|
UTSW |
18 |
60,434,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5755:F830016B08Rik
|
UTSW |
18 |
60,433,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:F830016B08Rik
|
UTSW |
18 |
60,433,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:F830016B08Rik
|
UTSW |
18 |
60,432,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6272:F830016B08Rik
|
UTSW |
18 |
60,433,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:F830016B08Rik
|
UTSW |
18 |
60,433,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8130:F830016B08Rik
|
UTSW |
18 |
60,433,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:F830016B08Rik
|
UTSW |
18 |
60,433,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8289:F830016B08Rik
|
UTSW |
18 |
60,433,360 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9034:F830016B08Rik
|
UTSW |
18 |
60,433,141 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9600:F830016B08Rik
|
UTSW |
18 |
60,433,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9614:F830016B08Rik
|
UTSW |
18 |
60,433,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:F830016B08Rik
|
UTSW |
18 |
60,432,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9638:F830016B08Rik
|
UTSW |
18 |
60,432,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9684:F830016B08Rik
|
UTSW |
18 |
60,433,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9729:F830016B08Rik
|
UTSW |
18 |
60,433,558 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
RF044:F830016B08Rik
|
UTSW |
18 |
60,433,010 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:F830016B08Rik
|
UTSW |
18 |
60,433,010 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGGAGCTGGAAAATCC -3'
(R):5'- AGCTTTGGATCTGCTTCAGG -3'
Sequencing Primer
(F):5'- GCCTCATCAATGCCCTGATAGG -3'
(R):5'- GGGCTTTTTCTCTTTCAAAAGTACG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation