Incidental Mutation 'R0738:A930011G23Rik'
| ID |
70564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A930011G23Rik
|
| Ensembl Gene |
ENSMUSG00000089809 |
| Gene Name |
RIKEN cDNA A930011G23 gene |
| Synonyms |
|
| MMRRC Submission |
038919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R0738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99388812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 189
(M189K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031276]
[ENSMUST00000166484]
[ENSMUST00000168092]
[ENSMUST00000209346]
|
| AlphaFold |
Q8JZL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031276
AA Change: M103K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: M103K
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
33 |
157 |
5.22e-4 |
SMART |
|
RasGEF
|
201 |
454 |
3.26e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166484
AA Change: M62K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: M62K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEFN
|
33 |
123 |
6e-50 |
BLAST |
|
RasGEF
|
159 |
412 |
3.26e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168092
AA Change: M103K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: M103K
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
33 |
157 |
2.8e-4 |
SMART |
|
RasGEF
|
200 |
453 |
3.26e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209346
AA Change: M189K
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0814 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
| Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
| Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
| Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,982,320 (GRCm39) |
I86N |
probably damaging |
Het |
| Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
| Lrfn5 |
G |
T |
12: 61,887,378 (GRCm39) |
E389* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,286,315 (GRCm39) |
L228P |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
| Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
| Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
| Mttp |
A |
G |
3: 137,809,074 (GRCm39) |
V678A |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
| Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
| Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,218,173 (GRCm39) |
H121Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
probably damaging |
Het |
|
| Other mutations in A930011G23Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:A930011G23Rik
|
APN |
5 |
99,391,102 (GRCm39) |
splice site |
probably null |
|
|
IGL00536:A930011G23Rik
|
APN |
5 |
99,370,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:A930011G23Rik
|
APN |
5 |
99,370,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:A930011G23Rik
|
APN |
5 |
99,390,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02422:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02422:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:A930011G23Rik
|
APN |
5 |
99,381,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02473:A930011G23Rik
|
APN |
5 |
99,370,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02498:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02537:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:A930011G23Rik
|
APN |
5 |
99,381,854 (GRCm39) |
splice site |
probably benign |
|
|
IGL02735:A930011G23Rik
|
APN |
5 |
99,377,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02735:A930011G23Rik
|
APN |
5 |
99,377,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:A930011G23Rik
|
APN |
5 |
99,381,784 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03129:A930011G23Rik
|
APN |
5 |
99,377,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03139:A930011G23Rik
|
APN |
5 |
99,391,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03239:A930011G23Rik
|
APN |
5 |
99,381,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03295:A930011G23Rik
|
APN |
5 |
99,390,915 (GRCm39) |
splice site |
probably benign |
|
|
R0011:A930011G23Rik
|
UTSW |
5 |
99,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0840:A930011G23Rik
|
UTSW |
5 |
99,382,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1779:A930011G23Rik
|
UTSW |
5 |
99,370,897 (GRCm39) |
splice site |
probably benign |
|
|
R1799:A930011G23Rik
|
UTSW |
5 |
99,382,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1992:A930011G23Rik
|
UTSW |
5 |
99,381,784 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2054:A930011G23Rik
|
UTSW |
5 |
99,375,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2157:A930011G23Rik
|
UTSW |
5 |
99,379,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2184:A930011G23Rik
|
UTSW |
5 |
99,380,228 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4565:A930011G23Rik
|
UTSW |
5 |
99,375,806 (GRCm39) |
intron |
probably benign |
|
|
R4930:A930011G23Rik
|
UTSW |
5 |
99,370,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5065:A930011G23Rik
|
UTSW |
5 |
99,382,432 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5739:A930011G23Rik
|
UTSW |
5 |
99,369,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:A930011G23Rik
|
UTSW |
5 |
99,388,731 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8228:A930011G23Rik
|
UTSW |
5 |
99,524,980 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTTTCGGTGACCAACCTC -3'
(R):5'- CAGTGATAGCCTGCTTATCTCCTGC -3'
Sequencing Primer
(F):5'- AACCTCCTCGCCACTGG -3'
(R):5'- CTAGGACCGTGGGTTATATTCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation