Incidental Mutation 'R8228:A930011G23Rik'
| ID |
637048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A930011G23Rik
|
| Ensembl Gene |
ENSMUSG00000089809 |
| Gene Name |
RIKEN cDNA A930011G23 gene |
| Synonyms |
|
| MMRRC Submission |
067661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R8228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
99445103-99876919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99524980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 60
(P60S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146396]
[ENSMUST00000161516]
[ENSMUST00000209346]
|
| AlphaFold |
Q8JZL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146396
AA Change: P60S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125723
Gene: ENSMUSG00000089809
AA Change: P60S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161516
AA Change: P60S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125057
Gene: ENSMUSG00000089809
AA Change: P60S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209346
AA Change: P76S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,324,500 (GRCm39) |
|
probably null |
Het |
| 1700008O03Rik |
A |
G |
7: 44,009,729 (GRCm39) |
Y158H |
probably benign |
Het |
| 4930438A08Rik |
T |
A |
11: 58,182,381 (GRCm39) |
I252N |
|
Het |
| Abcf1 |
A |
G |
17: 36,271,933 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,026,260 (GRCm39) |
T14A |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,054,755 (GRCm39) |
Y253H |
probably damaging |
Het |
| Anapc1 |
T |
A |
2: 128,461,837 (GRCm39) |
K1756* |
probably null |
Het |
| Arid5b |
T |
A |
10: 68,114,536 (GRCm39) |
E2V |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,251,569 (GRCm39) |
V545M |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCCTCTTC |
1: 133,629,459 (GRCm39) |
|
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,679,723 (GRCm39) |
T18A |
probably benign |
Het |
| Cfap119 |
G |
A |
7: 127,184,179 (GRCm39) |
T239M |
probably benign |
Het |
| Col1a1 |
T |
G |
11: 94,836,426 (GRCm39) |
|
probably null |
Het |
| Csdc2 |
C |
T |
15: 81,833,411 (GRCm39) |
T136I |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,498,129 (GRCm39) |
I609N |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Gjb6 |
T |
C |
14: 57,361,926 (GRCm39) |
R112G |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,252,992 (GRCm39) |
K646E |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,709,933 (GRCm39) |
E934G |
probably damaging |
Het |
| Grik5 |
A |
T |
7: 24,745,735 (GRCm39) |
F446Y |
possibly damaging |
Het |
| Iffo2 |
C |
G |
4: 139,302,483 (GRCm39) |
N75K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,041 (GRCm39) |
N649D |
possibly damaging |
Het |
| Lrit2 |
G |
A |
14: 36,791,148 (GRCm39) |
A276T |
probably damaging |
Het |
| Mcm8 |
T |
C |
2: 132,684,714 (GRCm39) |
|
probably null |
Het |
| Mmut |
A |
G |
17: 41,248,219 (GRCm39) |
E82G |
possibly damaging |
Het |
| Or4n4 |
A |
G |
14: 50,518,997 (GRCm39) |
S238P |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,284 (GRCm39) |
M255K |
probably benign |
Het |
| Pcdhga8 |
A |
G |
18: 37,861,236 (GRCm39) |
Q764R |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,582,865 (GRCm39) |
Y138C |
probably benign |
Het |
| Phf20l1 |
G |
T |
15: 66,511,789 (GRCm39) |
V922F |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,792,514 (GRCm39) |
I426N |
probably damaging |
Het |
| Psmd6 |
T |
C |
14: 14,116,843 (GRCm38) |
N160S |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,809,768 (GRCm39) |
D1172G |
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,734,544 (GRCm39) |
Y11H |
possibly damaging |
Het |
| Sec24c |
G |
T |
14: 20,739,975 (GRCm39) |
A635S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,997 (GRCm39) |
I478V |
probably benign |
Het |
| Traip |
T |
C |
9: 107,838,265 (GRCm39) |
M166T |
probably benign |
Het |
| Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
| Trim46 |
G |
T |
3: 89,142,255 (GRCm39) |
T744N |
probably benign |
Het |
| Tsc1 |
C |
A |
2: 28,566,141 (GRCm39) |
A520D |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,155,716 (GRCm39) |
E852G |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,954 (GRCm39) |
F885S |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,746,818 (GRCm39) |
R354W |
probably damaging |
Het |
| Zfp456 |
C |
A |
13: 67,514,533 (GRCm39) |
C391F |
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 |
|
R0738:A930011G23Rik
|
UTSW |
5 |
99,388,812 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAACATTTTGCCAAGG -3'
(R):5'- ACGCTGGCTCAGGTATTTC -3'
Sequencing Primer
(F):5'- CCAAGGGCAAATTTCACTAGTGTC -3'
(R):5'- GCTGGCTCAGGTATTTCAATGACAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation