Incidental Mutation 'R4240:4833420G17Rik'
| ID |
320185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4833420G17Rik
|
| Ensembl Gene |
ENSMUSG00000062822 |
| Gene Name |
RIKEN cDNA 4833420G17 gene |
| Synonyms |
|
| MMRRC Submission |
041057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119603478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 93
(P93S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026519]
[ENSMUST00000224081]
[ENSMUST00000224312]
[ENSMUST00000225186]
[ENSMUST00000225726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026519
AA Change: P93S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: P93S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224081
AA Change: P93S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224312
AA Change: P93S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225186
AA Change: P93S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225726
AA Change: P93S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
93% (50/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
| Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
| Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
| Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
| Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
| Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
| Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
| Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
| Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
| Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
| Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
| Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
probably benign |
Het |
|
| Other mutations in 4833420G17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:4833420G17Rik
|
APN |
13 |
119,603,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01555:4833420G17Rik
|
APN |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02395:4833420G17Rik
|
APN |
13 |
119,617,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:4833420G17Rik
|
APN |
13 |
119,611,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02904:4833420G17Rik
|
APN |
13 |
119,620,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:4833420G17Rik
|
APN |
13 |
119,617,563 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0410:4833420G17Rik
|
UTSW |
13 |
119,606,268 (GRCm39) |
missense |
probably benign |
|
|
R0437:4833420G17Rik
|
UTSW |
13 |
119,606,631 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0513:4833420G17Rik
|
UTSW |
13 |
119,606,195 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0569:4833420G17Rik
|
UTSW |
13 |
119,621,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0788:4833420G17Rik
|
UTSW |
13 |
119,610,468 (GRCm39) |
nonsense |
probably null |
|
|
R1495:4833420G17Rik
|
UTSW |
13 |
119,614,356 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1617:4833420G17Rik
|
UTSW |
13 |
119,603,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:4833420G17Rik
|
UTSW |
13 |
119,606,216 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1914:4833420G17Rik
|
UTSW |
13 |
119,622,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2169:4833420G17Rik
|
UTSW |
13 |
119,622,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4238:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:4833420G17Rik
|
UTSW |
13 |
119,606,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4469:4833420G17Rik
|
UTSW |
13 |
119,606,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4643:4833420G17Rik
|
UTSW |
13 |
119,611,396 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4964:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R4966:4833420G17Rik
|
UTSW |
13 |
119,610,757 (GRCm39) |
intron |
probably benign |
|
|
R5093:4833420G17Rik
|
UTSW |
13 |
119,610,573 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5384:4833420G17Rik
|
UTSW |
13 |
119,606,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6255:4833420G17Rik
|
UTSW |
13 |
119,602,659 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6491:4833420G17Rik
|
UTSW |
13 |
119,612,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:4833420G17Rik
|
UTSW |
13 |
119,622,613 (GRCm39) |
splice site |
probably null |
|
|
R7023:4833420G17Rik
|
UTSW |
13 |
119,610,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7574:4833420G17Rik
|
UTSW |
13 |
119,606,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9218:4833420G17Rik
|
UTSW |
13 |
119,610,460 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9508:4833420G17Rik
|
UTSW |
13 |
119,617,484 (GRCm39) |
missense |
|
|
|
R9521:4833420G17Rik
|
UTSW |
13 |
119,608,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9567:4833420G17Rik
|
UTSW |
13 |
119,602,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:4833420G17Rik
|
UTSW |
13 |
119,615,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
Z1177:4833420G17Rik
|
UTSW |
13 |
119,614,344 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGACTTCTGTCATTCTAAACTG -3'
(R):5'- TCTGCAATGCTATAGTCCTTGC -3'
Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GCAATGCTATAGTCCTTGCTATAAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation