Incidental Mutation 'R4034:9930111J21Rik2'
ID |
313632 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
9930111J21Rik2
|
Ensembl Gene |
ENSMUSG00000069892 |
Gene Name |
RIKEN cDNA 9930111J21 gene 2 |
Synonyms |
|
MMRRC Submission |
040962-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R4034 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48928487-48942069 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 48910108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 775
(L775*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056759]
[ENSMUST00000101295]
[ENSMUST00000179282]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056759
|
SMART Domains |
Protein: ENSMUSP00000058544 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000101295
AA Change: L775*
|
SMART Domains |
Protein: ENSMUSP00000098853 Gene: ENSMUSG00000069892 AA Change: L775*
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
36 |
398 |
2e-125 |
PFAM |
Pfam:DLIC
|
52 |
107 |
3.2e-5 |
PFAM |
Pfam:MMR_HSR1
|
72 |
235 |
2e-11 |
PFAM |
low complexity region
|
430 |
444 |
N/A |
INTRINSIC |
Pfam:IIGP
|
447 |
820 |
2.3e-151 |
PFAM |
Pfam:MMR_HSR1
|
483 |
607 |
5.2e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179282
|
SMART Domains |
Protein: ENSMUSP00000136647 Gene: ENSMUSG00000040328
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
1 |
276 |
3.6e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
Pfam:7tm_1
|
10 |
259 |
3.8e-26 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
Het |
|
Other mutations in 9930111J21Rik2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1986:9930111J21Rik2
|
UTSW |
11 |
48,910,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2023:9930111J21Rik2
|
UTSW |
11 |
48,911,144 (GRCm39) |
missense |
probably benign |
0.01 |
R2202:9930111J21Rik2
|
UTSW |
11 |
48,910,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:9930111J21Rik2
|
UTSW |
11 |
48,910,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R2337:9930111J21Rik2
|
UTSW |
11 |
48,911,131 (GRCm39) |
missense |
probably benign |
0.01 |
R3709:9930111J21Rik2
|
UTSW |
11 |
48,910,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:9930111J21Rik2
|
UTSW |
11 |
48,910,363 (GRCm39) |
missense |
probably damaging |
0.96 |
R3738:9930111J21Rik2
|
UTSW |
11 |
48,910,108 (GRCm39) |
nonsense |
probably null |
|
R3739:9930111J21Rik2
|
UTSW |
11 |
48,910,108 (GRCm39) |
nonsense |
probably null |
|
R5413:9930111J21Rik2
|
UTSW |
11 |
48,911,204 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5595:9930111J21Rik2
|
UTSW |
11 |
48,910,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5611:9930111J21Rik2
|
UTSW |
11 |
48,910,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5651:9930111J21Rik2
|
UTSW |
11 |
48,910,700 (GRCm39) |
missense |
probably damaging |
0.99 |
R5715:9930111J21Rik2
|
UTSW |
11 |
48,910,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:9930111J21Rik2
|
UTSW |
11 |
48,910,088 (GRCm39) |
splice site |
probably null |
|
R6218:9930111J21Rik2
|
UTSW |
11 |
48,910,134 (GRCm39) |
missense |
probably benign |
0.06 |
R6536:9930111J21Rik2
|
UTSW |
11 |
48,910,550 (GRCm39) |
missense |
probably benign |
0.03 |
R7186:9930111J21Rik2
|
UTSW |
11 |
48,910,100 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7891:9930111J21Rik2
|
UTSW |
11 |
48,910,543 (GRCm39) |
missense |
probably benign |
0.11 |
R8056:9930111J21Rik2
|
UTSW |
11 |
48,910,909 (GRCm39) |
missense |
probably benign |
0.40 |
R8419:9930111J21Rik2
|
UTSW |
11 |
48,910,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:9930111J21Rik2
|
UTSW |
11 |
48,910,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCCAGCCCTAAGGTTAGTAC -3'
(R):5'- AGAAGTTGGAAGAGACCTTGACTC -3'
Sequencing Primer
(F):5'- TCCCAGTATTCAGGGAGGTCAG -3'
(R):5'- GTTGGAAGAGACCTTGACTCTCTAC -3'
|
Posted On |
2015-04-30 |