Incidental Mutation 'R6536:9930111J21Rik2'
| ID |
520427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9930111J21Rik2
|
| Ensembl Gene |
ENSMUSG00000069892 |
| Gene Name |
RIKEN cDNA 9930111J21 gene 2 |
| Synonyms |
|
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48928487-48942069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 48910550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 628
(H628N)
|
| 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: H628N
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: H628N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,508 (GRCm39) |
|
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
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 |
|
|
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 |
|
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'- AAATCCCTCTTCCGGGCAATG -3'
(R):5'- TCTGACAGAAATGAAGTTTGGTGAG -3'
Sequencing Primer
(F):5'- CAATGGCAGTCTCAGTAACACTGTG -3'
(R):5'- ATCTCGGCTACATGCTTCAAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation