Incidental Mutation 'R2373:9130023H24Rik'
| ID |
248203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9130023H24Rik
|
| Ensembl Gene |
ENSMUSG00000062944 |
| Gene Name |
RIKEN cDNA 9130023H24 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2373 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127833630-127837203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127836487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 35
(D35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044660]
[ENSMUST00000078816]
|
| AlphaFold |
Q8BG98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044660
|
| SMART Domains |
Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
104 |
N/A |
INTRINSIC |
|
ARM
|
137 |
179 |
2.89e-1 |
SMART |
|
ARM
|
180 |
221 |
3.32e-1 |
SMART |
|
ARM
|
222 |
263 |
2.93e-2 |
SMART |
|
Blast:ARM
|
265 |
306 |
1e-8 |
BLAST |
|
low complexity region
|
313 |
338 |
N/A |
INTRINSIC |
|
ARM
|
353 |
399 |
4.88e0 |
SMART |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
690 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
742 |
854 |
9.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078816
AA Change: D35E
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: D35E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
88 |
110 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
116 |
138 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
144 |
166 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
2.53e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206509
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
Het |
|
| Other mutations in 9130023H24Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:9130023H24Rik
|
APN |
7 |
127,836,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01865:9130023H24Rik
|
APN |
7 |
127,836,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0319:9130023H24Rik
|
UTSW |
7 |
127,836,362 (GRCm39) |
missense |
probably benign |
|
|
R1376:9130023H24Rik
|
UTSW |
7 |
127,836,182 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1376:9130023H24Rik
|
UTSW |
7 |
127,836,182 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4751:9130023H24Rik
|
UTSW |
7 |
127,836,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:9130023H24Rik
|
UTSW |
7 |
127,836,353 (GRCm39) |
missense |
probably benign |
|
|
R5577:9130023H24Rik
|
UTSW |
7 |
127,835,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:9130023H24Rik
|
UTSW |
7 |
127,835,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:9130023H24Rik
|
UTSW |
7 |
127,835,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6800:9130023H24Rik
|
UTSW |
7 |
127,836,742 (GRCm39) |
start gained |
probably benign |
|
|
R7040:9130023H24Rik
|
UTSW |
7 |
127,835,897 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7529:9130023H24Rik
|
UTSW |
7 |
127,836,336 (GRCm39) |
nonsense |
probably null |
|
|
R7672:9130023H24Rik
|
UTSW |
7 |
127,836,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:9130023H24Rik
|
UTSW |
7 |
127,836,123 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATGGCTGCTTTGATGG -3'
(R):5'- CGTTCTCCAACTGTGCTGATG -3'
Sequencing Primer
(F):5'- CTTTGATGGTGAATGAGATCAGAG -3'
(R):5'- CTCCAACTGTGCTGATGAGTTAAACG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation