Incidental Mutation 'R6567:9930111J21Rik1'
| ID |
522771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9930111J21Rik1
|
| Ensembl Gene |
ENSMUSG00000069893 |
| Gene Name |
RIKEN cDNA 9930111J21 gene 1 |
| Synonyms |
9930111J21Rik |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
48836977-48870208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48838950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 546
(T546A)
|
| 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 |
probably benign
Transcript: ENSMUST00000097494
AA Change: T546A
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: T546A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
|
R3961:9930111J21Rik1
|
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 |
|
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'- GCACACTGTCTCTATTGAAAGACC -3'
(R):5'- TGCTGTGACTGGAGAAACAG -3'
Sequencing Primer
(F):5'- GAAAGACCTAGGTTTACTCCTCTG -3'
(R):5'- CAGGGACAGGAAAATCCAGCTTTATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation