Incidental Mutation 'R4469:4833420G17Rik'
| ID |
329335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4833420G17Rik
|
| Ensembl Gene |
ENSMUSG00000062822 |
| Gene Name |
RIKEN cDNA 4833420G17 gene |
| Synonyms |
|
| MMRRC Submission |
041726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4469 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
119599304-119622656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119606345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 196
(K196E)
|
| 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 damaging
Transcript: ENSMUST00000026519
AA Change: K196E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: K196E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4524
|
9 |
154 |
5e-61 |
PFAM |
|
Pfam:DUF4520
|
451 |
542 |
8.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000048965
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224081
AA Change: K196E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224312
AA Change: K196E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225186
AA Change: K196E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225726
AA Change: K196E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1608 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
| Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
| Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
| G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
| Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
| Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
| Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
| Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
probably damaging |
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 |
|
R4240:4833420G17Rik
|
UTSW |
13 |
119,603,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:4833420G17Rik
|
UTSW |
13 |
119,606,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- GTGGTGAAGATAACATCCCTGG -3'
(R):5'- AAGACAGAGGGTGTTTCCACG -3'
Sequencing Primer
(F):5'- ATGGACACGCGTACCTTTG -3'
(R):5'- GTTTCCACGCCTCTGGACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation