Incidental Mutation 'R8421:4930430A15Rik'
| ID |
653178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| MMRRC Submission |
067898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R8421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 111218610 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 275
(K275*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028577
AA Change: K275*
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: K275*
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
78 |
107 |
1.61e-4 |
SMART |
|
ANK
|
111 |
140 |
3.6e-2 |
SMART |
|
ANK
|
144 |
173 |
4.89e-4 |
SMART |
|
ANK
|
177 |
206 |
4.03e-5 |
SMART |
|
ANK
|
210 |
239 |
8.72e-1 |
SMART |
|
Blast:ANK
|
243 |
272 |
4e-12 |
BLAST |
|
low complexity region
|
460 |
472 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,643,029 (GRCm38) |
E1239G |
unknown |
Het |
| Actn3 |
T |
C |
19: 4,861,713 (GRCm38) |
M806V |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 88,322,184 (GRCm38) |
T676A |
probably benign |
Het |
| Ankef1 |
C |
A |
2: 136,537,165 (GRCm38) |
Q12K |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,334,836 (GRCm38) |
G231V |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,094,558 (GRCm38) |
V157D |
probably damaging |
Het |
| Atp6v1b1 |
T |
A |
6: 83,753,809 (GRCm38) |
M163K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,028,471 (GRCm38) |
M117K |
probably benign |
Het |
| Ccdc87 |
T |
C |
19: 4,841,285 (GRCm38) |
Y602H |
possibly damaging |
Het |
| Cdh16 |
C |
T |
8: 104,621,970 (GRCm38) |
R142K |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,396,690 (GRCm38) |
V431I |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,127,894 (GRCm38) |
D719G |
probably damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,800,781 (GRCm38) |
F88S |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,842,679 (GRCm38) |
Y212C |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,968,122 (GRCm38) |
D261G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,102,477 (GRCm38) |
D2641G |
probably damaging |
Het |
| E330021D16Rik |
T |
C |
6: 136,401,352 (GRCm38) |
E160G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,998,184 (GRCm38) |
V2174D |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,698,970 (GRCm38) |
L244P |
probably damaging |
Het |
| Hcn4 |
T |
A |
9: 58,858,096 (GRCm38) |
D620E |
unknown |
Het |
| Ide |
A |
G |
19: 37,278,004 (GRCm38) |
V800A |
|
Het |
| Ikbkb |
A |
T |
8: 22,678,788 (GRCm38) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,665,800 (GRCm38) |
F197Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,725,423 (GRCm38) |
Y3656F |
|
Het |
| Mapkbp1 |
C |
A |
2: 120,018,950 (GRCm38) |
N708K |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 109,948,647 (GRCm38) |
M179T |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,226,367 (GRCm38) |
A167G |
probably benign |
Het |
| Mrpl35 |
T |
C |
6: 71,816,167 (GRCm38) |
K167E |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,362,124 (GRCm38) |
V594A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,452,521 (GRCm38) |
T356A |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,203,867 (GRCm38) |
Y1692C |
probably damaging |
Het |
| Olfr1054 |
T |
A |
2: 86,332,903 (GRCm38) |
Y151F |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 121,099,268 (GRCm38) |
|
probably null |
Het |
| Oxnad1 |
T |
G |
14: 32,099,474 (GRCm38) |
I172S |
probably benign |
Het |
| Padi4 |
C |
A |
4: 140,748,222 (GRCm38) |
C544F |
probably damaging |
Het |
| Pard3 |
A |
C |
8: 127,140,408 (GRCm38) |
|
probably benign |
Het |
| Plvap |
G |
A |
8: 71,511,532 (GRCm38) |
T62M |
probably damaging |
Het |
| Prdm8 |
C |
T |
5: 98,185,963 (GRCm38) |
A463V |
probably damaging |
Het |
| Prss21 |
T |
A |
17: 23,869,368 (GRCm38) |
D102E |
possibly damaging |
Het |
| Psmb10 |
G |
T |
8: 105,936,710 (GRCm38) |
Q182K |
probably benign |
Het |
| Rasgrf1 |
C |
T |
9: 89,967,915 (GRCm38) |
P319S |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,072,863 (GRCm38) |
Q1161* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,996,584 (GRCm38) |
E112G |
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,210,585 (GRCm38) |
T393A |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,593,371 (GRCm38) |
E954G |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 166,117,052 (GRCm38) |
I79F |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,114,735 (GRCm38) |
K135E |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,178,304 (GRCm38) |
E3044G |
unknown |
Het |
| Usf3 |
A |
T |
16: 44,217,209 (GRCm38) |
Q684L |
possibly damaging |
Het |
| Vmn1r114 |
A |
T |
7: 20,811,534 (GRCm38) |
M218K |
possibly damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,524,984 (GRCm38) |
*312G |
probably null |
Het |
| Vmn2r67 |
A |
C |
7: 85,136,685 (GRCm38) |
L704R |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,133,246 (GRCm38) |
T755A |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 135,988,477 (GRCm38) |
T381A |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,585,827 (GRCm38) |
D957G |
probably damaging |
Het |
|
| Other mutations in 4930430A15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:4930430A15Rik
|
APN |
2 |
111,220,762 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01403:4930430A15Rik
|
APN |
2 |
111,229,170 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01431:4930430A15Rik
|
APN |
2 |
111,225,395 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01601:4930430A15Rik
|
APN |
2 |
111,193,478 (GRCm38) |
missense |
unknown |
|
|
IGL01649:4930430A15Rik
|
APN |
2 |
111,214,576 (GRCm38) |
splice site |
probably benign |
|
|
IGL02355:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02362:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02485:4930430A15Rik
|
APN |
2 |
111,228,325 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02620:4930430A15Rik
|
APN |
2 |
111,211,625 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03156:4930430A15Rik
|
APN |
2 |
111,200,412 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02980:4930430A15Rik
|
UTSW |
2 |
111,164,473 (GRCm38) |
missense |
unknown |
|
|
R0577:4930430A15Rik
|
UTSW |
2 |
111,194,349 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0638:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0645:4930430A15Rik
|
UTSW |
2 |
111,214,583 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0671:4930430A15Rik
|
UTSW |
2 |
111,204,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0829:4930430A15Rik
|
UTSW |
2 |
111,198,105 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1486:4930430A15Rik
|
UTSW |
2 |
111,200,358 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1509:4930430A15Rik
|
UTSW |
2 |
111,218,627 (GRCm38) |
missense |
probably benign |
|
|
R1672:4930430A15Rik
|
UTSW |
2 |
111,220,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2073:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2074:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2075:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2899:4930430A15Rik
|
UTSW |
2 |
111,220,670 (GRCm38) |
splice site |
probably benign |
|
|
R2965:4930430A15Rik
|
UTSW |
2 |
111,204,019 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3110:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4489:4930430A15Rik
|
UTSW |
2 |
111,220,702 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4821:4930430A15Rik
|
UTSW |
2 |
111,204,145 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4925:4930430A15Rik
|
UTSW |
2 |
111,218,616 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5045:4930430A15Rik
|
UTSW |
2 |
111,193,459 (GRCm38) |
missense |
unknown |
|
|
R5057:4930430A15Rik
|
UTSW |
2 |
111,225,421 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5128:4930430A15Rik
|
UTSW |
2 |
111,164,329 (GRCm38) |
nonsense |
probably null |
|
|
R5250:4930430A15Rik
|
UTSW |
2 |
111,228,077 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5333:4930430A15Rik
|
UTSW |
2 |
111,194,337 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5376:4930430A15Rik
|
UTSW |
2 |
111,215,599 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5677:4930430A15Rik
|
UTSW |
2 |
111,211,565 (GRCm38) |
missense |
probably benign |
|
|
R5722:4930430A15Rik
|
UTSW |
2 |
111,204,123 (GRCm38) |
missense |
probably benign |
|
|
R5735:4930430A15Rik
|
UTSW |
2 |
111,225,492 (GRCm38) |
nonsense |
probably null |
|
|
R6170:4930430A15Rik
|
UTSW |
2 |
111,227,948 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6366:4930430A15Rik
|
UTSW |
2 |
111,169,592 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6496:4930430A15Rik
|
UTSW |
2 |
111,164,472 (GRCm38) |
missense |
unknown |
|
|
R6654:4930430A15Rik
|
UTSW |
2 |
111,171,884 (GRCm38) |
missense |
unknown |
|
|
R6983:4930430A15Rik
|
UTSW |
2 |
111,228,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7371:4930430A15Rik
|
UTSW |
2 |
111,193,481 (GRCm38) |
missense |
unknown |
|
|
R7958:4930430A15Rik
|
UTSW |
2 |
111,170,325 (GRCm38) |
missense |
unknown |
|
|
R8495:4930430A15Rik
|
UTSW |
2 |
111,229,410 (GRCm38) |
start codon destroyed |
probably null |
0.33 |
|
R8534:4930430A15Rik
|
UTSW |
2 |
111,228,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8671:4930430A15Rik
|
UTSW |
2 |
111,229,532 (GRCm38) |
unclassified |
probably benign |
|
|
R8679:4930430A15Rik
|
UTSW |
2 |
111,229,222 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8743:4930430A15Rik
|
UTSW |
2 |
111,169,672 (GRCm38) |
missense |
unknown |
|
|
R8983:4930430A15Rik
|
UTSW |
2 |
111,200,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9213:4930430A15Rik
|
UTSW |
2 |
111,190,354 (GRCm38) |
missense |
unknown |
|
|
R9457:4930430A15Rik
|
UTSW |
2 |
111,170,286 (GRCm38) |
missense |
unknown |
|
|
R9723:4930430A15Rik
|
UTSW |
2 |
111,228,355 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9745:4930430A15Rik
|
UTSW |
2 |
111,169,663 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGCTTTGGTGAGTGATAAC -3'
(R):5'- AGGATTTCATGATTTCTGGACAGC -3'
Sequencing Primer
(F):5'- CAGCTTTGGTGAGTGATAACAAAATC -3'
(R):5'- AGTGGAAGAAAATAACACATTGGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation