Incidental Mutation 'R3961:9930111J21Rik1'
| ID |
312092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9930111J21Rik1
|
| Ensembl Gene |
ENSMUSG00000069893 |
| Gene Name |
RIKEN cDNA 9930111J21 gene 1 |
| Synonyms |
9930111J21Rik |
| MMRRC Submission |
040836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3961 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48836977-48870208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48838803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 595
(T595A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000097494]
[ENSMUST00000104958]
|
| AlphaFold |
Q5SVP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059930
|
| SMART Domains |
Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IIGP
|
27 |
389 |
8.4e-123 |
PFAM |
|
Pfam:MMR_HSR1
|
63 |
190 |
2.2e-9 |
PFAM |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
Pfam:IIGP
|
438 |
811 |
3.4e-152 |
PFAM |
|
Pfam:MMR_HSR1
|
474 |
632 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097494
AA Change: T595A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: T595A
| 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 |
1.9e-153 |
PFAM |
|
Pfam:MMR_HSR1
|
483 |
611 |
3.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104958
|
| SMART Domains |
Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
11 |
71 |
1.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
93 |
237 |
5.3e-58 |
PFAM |
|
| Meta Mutation Damage Score |
0.5383 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicral |
T |
C |
17: 47,135,751 (GRCm39) |
I486M |
probably damaging |
Het |
| Btbd1 |
C |
A |
7: 81,468,083 (GRCm39) |
E146* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,574 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dazl |
A |
G |
17: 50,595,161 (GRCm39) |
V91A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,825,244 (GRCm39) |
|
probably null |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,252,613 (GRCm39) |
M419K |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,562,950 (GRCm39) |
T436M |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,880,241 (GRCm39) |
E88* |
probably null |
Het |
| Or5ak23 |
T |
C |
2: 85,245,216 (GRCm39) |
I2M |
possibly damaging |
Het |
| Pdcl |
T |
C |
2: 37,242,199 (GRCm39) |
M184V |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,520,166 (GRCm39) |
M694T |
possibly damaging |
Het |
| Pramel12 |
T |
A |
4: 143,145,888 (GRCm39) |
N452K |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,647,475 (GRCm39) |
|
probably null |
Het |
| Prss35 |
A |
G |
9: 86,637,802 (GRCm39) |
M191V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,174 (GRCm39) |
V131A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,445,133 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,031 (GRCm39) |
D741N |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpte |
A |
G |
8: 22,849,431 (GRCm39) |
S553G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,178,246 (GRCm39) |
K438* |
probably null |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,717 (GRCm39) |
G757R |
probably damaging |
Het |
|
| Other mutations in 9930111J21Rik1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:9930111J21Rik1
|
APN |
11 |
48,839,039 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02189:9930111J21Rik1
|
APN |
11 |
48,838,248 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02554:9930111J21Rik1
|
APN |
11 |
48,838,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03172:9930111J21Rik1
|
APN |
11 |
48,839,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:9930111J21Rik1
|
APN |
11 |
48,838,302 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0502:9930111J21Rik1
|
UTSW |
11 |
48,838,322 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0503:9930111J21Rik1
|
UTSW |
11 |
48,838,322 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2023:9930111J21Rik1
|
UTSW |
11 |
48,839,247 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3704:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3705:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3714:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3715:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3962:9930111J21Rik1
|
UTSW |
11 |
48,838,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4867:9930111J21Rik1
|
UTSW |
11 |
48,839,375 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5033:9930111J21Rik1
|
UTSW |
11 |
48,838,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:9930111J21Rik1
|
UTSW |
11 |
48,839,352 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6567:9930111J21Rik1
|
UTSW |
11 |
48,838,950 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6774:9930111J21Rik1
|
UTSW |
11 |
48,838,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7730:9930111J21Rik1
|
UTSW |
11 |
48,838,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7863:9930111J21Rik1
|
UTSW |
11 |
48,838,101 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8408:9930111J21Rik1
|
UTSW |
11 |
48,838,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:9930111J21Rik1
|
UTSW |
11 |
48,839,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:9930111J21Rik1
|
UTSW |
11 |
48,839,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9493:9930111J21Rik1
|
UTSW |
11 |
48,838,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:9930111J21Rik1
|
UTSW |
11 |
48,839,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:9930111J21Rik1
|
UTSW |
11 |
48,838,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:9930111J21Rik1
|
UTSW |
11 |
48,839,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:9930111J21Rik1
|
UTSW |
11 |
48,838,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGAAGAGGTGGCGCTTG -3'
(R):5'- TTGCCTGGCATTGGGTCTAC -3'
Sequencing Primer
(F):5'- CTCAGTAGGGTGGTCTCCAG -3'
(R):5'- GGTCTACTACCTTCCCACCAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation