Incidental Mutation 'R2337:9930111J21Rik2'
ID |
246591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
9930111J21Rik2
|
Ensembl Gene |
ENSMUSG00000069892 |
Gene Name |
RIKEN cDNA 9930111J21 gene 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.271)
|
Stock # |
R2337 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
48928487-48942069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48911131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 434
(N434S)
|
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 benign
Transcript: ENSMUST00000101295
AA Change: N434S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000098853 Gene: ENSMUSG00000069892 AA Change: N434S
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Acaca |
T |
C |
11: 84,148,023 (GRCm39) |
S691P |
possibly damaging |
Het |
Arid5b |
T |
C |
10: 67,933,607 (GRCm39) |
D765G |
possibly damaging |
Het |
Ccdc14 |
A |
G |
16: 34,525,388 (GRCm39) |
H179R |
probably benign |
Het |
Ccdc177 |
C |
T |
12: 80,805,465 (GRCm39) |
A270T |
unknown |
Het |
Cdh16 |
G |
T |
8: 105,348,902 (GRCm39) |
T65K |
probably benign |
Het |
Dag1 |
G |
T |
9: 108,084,596 (GRCm39) |
Y848* |
probably null |
Het |
Dnhd1 |
C |
T |
7: 105,352,674 (GRCm39) |
T2609I |
probably benign |
Het |
Eif1ad5 |
T |
A |
12: 87,946,948 (GRCm39) |
V130E |
unknown |
Het |
Fat4 |
A |
G |
3: 39,034,160 (GRCm39) |
Y2604C |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,649,655 (GRCm39) |
D164G |
possibly damaging |
Het |
Fnip1 |
G |
A |
11: 54,366,563 (GRCm39) |
D109N |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,493,628 (GRCm39) |
I755N |
probably damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,403,987 (GRCm39) |
V281A |
possibly damaging |
Het |
Hmg20b |
T |
C |
10: 81,184,347 (GRCm39) |
E50G |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,111,083 (GRCm39) |
D1498G |
probably damaging |
Het |
Poc5 |
T |
C |
13: 96,547,111 (GRCm39) |
V458A |
probably damaging |
Het |
Tada2b |
T |
C |
5: 36,634,258 (GRCm39) |
M107V |
probably benign |
Het |
Tle6 |
T |
C |
10: 81,428,490 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly 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 |
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 |
|
R4034:9930111J21Rik2
|
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'- CTCCCCTCAAGGCATTGATAAAG -3'
(R):5'- ATGGTATCAGCAGCTGAGCTC -3'
Sequencing Primer
(F):5'- GATAAAGCTGGATTTTCCTGTCC -3'
(R):5'- CAGCTGAGCTCCCATTTTATCATAAG -3'
|
Posted On |
2014-10-30 |