Incidental Mutation 'R0083:4930562C15Rik'
| ID |
19780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930562C15Rik
|
| Ensembl Gene |
ENSMUSG00000022518 |
| Gene Name |
RIKEN cDNA 4930562C15 gene |
| Synonyms |
|
| MMRRC Submission |
038370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0083 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4653280-4685550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4667406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 266
(I266F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100211]
[ENSMUST00000175836]
[ENSMUST00000177042]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000100211
AA Change: I266F
|
| SMART Domains |
Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: I266F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
289 |
315 |
2.54e-5 |
PROSPERO |
|
internal_repeat_1
|
314 |
341 |
2.54e-5 |
PROSPERO |
|
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
|
Pfam:DUF4795
|
745 |
960 |
1.7e-46 |
PFAM |
|
low complexity region
|
1095 |
1109 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175836
|
| SMART Domains |
Protein: ENSMUSP00000135532
Gene: ENSMUSG00000022518
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
72 |
98 |
1.04e-6 |
PROSPERO |
|
internal_repeat_1
|
97 |
124 |
1.04e-6 |
PROSPERO |
|
low complexity region
|
143 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
252 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
253 |
306 |
2.47e-5 |
PROSPERO |
|
internal_repeat_2
|
297 |
351 |
2.47e-5 |
PROSPERO |
|
low complexity region
|
356 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
coiled coil region
|
564 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
601 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177042
|
| SMART Domains |
Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
289 |
315 |
2.39e-6 |
PROSPERO |
|
internal_repeat_1
|
314 |
341 |
2.39e-6 |
PROSPERO |
|
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
470 |
523 |
5.51e-5 |
PROSPERO |
|
internal_repeat_2
|
514 |
568 |
5.51e-5 |
PROSPERO |
|
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
|
coiled coil region
|
781 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
818 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
| Validation Efficiency |
88% (117/133) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
| Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
| Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
| Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Sap130 |
C |
A |
18: 31,799,382 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,844,694 (GRCm39) |
P902S |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in 4930562C15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00936:4930562C15Rik
|
APN |
16 |
4,682,510 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01610:4930562C15Rik
|
APN |
16 |
4,669,429 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:4930562C15Rik
|
APN |
16 |
4,685,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03242:4930562C15Rik
|
APN |
16 |
4,667,189 (GRCm39) |
missense |
unknown |
|
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
|
R0565:4930562C15Rik
|
UTSW |
16 |
4,682,200 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0630:4930562C15Rik
|
UTSW |
16 |
4,668,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0734:4930562C15Rik
|
UTSW |
16 |
4,668,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1200:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R1738:4930562C15Rik
|
UTSW |
16 |
4,682,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:4930562C15Rik
|
UTSW |
16 |
4,669,422 (GRCm39) |
splice site |
probably null |
|
|
R1945:4930562C15Rik
|
UTSW |
16 |
4,653,549 (GRCm39) |
missense |
unknown |
|
|
R2132:4930562C15Rik
|
UTSW |
16 |
4,653,835 (GRCm39) |
missense |
unknown |
|
|
R2445:4930562C15Rik
|
UTSW |
16 |
4,682,261 (GRCm39) |
splice site |
probably null |
|
|
R2696:4930562C15Rik
|
UTSW |
16 |
4,668,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4729:4930562C15Rik
|
UTSW |
16 |
4,667,187 (GRCm39) |
missense |
unknown |
|
|
R4779:4930562C15Rik
|
UTSW |
16 |
4,667,613 (GRCm39) |
missense |
unknown |
|
|
R4806:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4808:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4876:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
|
R4931:4930562C15Rik
|
UTSW |
16 |
4,678,910 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4956:4930562C15Rik
|
UTSW |
16 |
4,672,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5085:4930562C15Rik
|
UTSW |
16 |
4,653,837 (GRCm39) |
nonsense |
probably null |
|
|
R5203:4930562C15Rik
|
UTSW |
16 |
4,653,462 (GRCm39) |
missense |
unknown |
|
|
R5229:4930562C15Rik
|
UTSW |
16 |
4,667,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5461:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5462:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:4930562C15Rik
|
UTSW |
16 |
4,682,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6054:4930562C15Rik
|
UTSW |
16 |
4,653,729 (GRCm39) |
missense |
unknown |
|
|
R6405:4930562C15Rik
|
UTSW |
16 |
4,669,742 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6859:4930562C15Rik
|
UTSW |
16 |
4,669,799 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7124:4930562C15Rik
|
UTSW |
16 |
4,682,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7139:4930562C15Rik
|
UTSW |
16 |
4,668,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:4930562C15Rik
|
UTSW |
16 |
4,667,578 (GRCm39) |
missense |
unknown |
|
|
R7219:4930562C15Rik
|
UTSW |
16 |
4,667,508 (GRCm39) |
missense |
unknown |
|
|
R7366:4930562C15Rik
|
UTSW |
16 |
4,653,633 (GRCm39) |
missense |
unknown |
|
|
R7592:4930562C15Rik
|
UTSW |
16 |
4,667,138 (GRCm39) |
missense |
unknown |
|
|
R7759:4930562C15Rik
|
UTSW |
16 |
4,682,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:4930562C15Rik
|
UTSW |
16 |
4,682,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7873:4930562C15Rik
|
UTSW |
16 |
4,684,091 (GRCm39) |
missense |
probably benign |
|
|
R7916:4930562C15Rik
|
UTSW |
16 |
4,682,454 (GRCm39) |
nonsense |
probably null |
|
|
R8093:4930562C15Rik
|
UTSW |
16 |
4,669,368 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8169:4930562C15Rik
|
UTSW |
16 |
4,684,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8278:4930562C15Rik
|
UTSW |
16 |
4,668,040 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8372:4930562C15Rik
|
UTSW |
16 |
4,682,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8493:4930562C15Rik
|
UTSW |
16 |
4,653,453 (GRCm39) |
start codon destroyed |
unknown |
|
|
R8549:4930562C15Rik
|
UTSW |
16 |
4,681,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8947:4930562C15Rik
|
UTSW |
16 |
4,665,292 (GRCm39) |
missense |
unknown |
|
|
R9137:4930562C15Rik
|
UTSW |
16 |
4,685,312 (GRCm39) |
missense |
probably benign |
|
|
R9339:4930562C15Rik
|
UTSW |
16 |
4,667,521 (GRCm39) |
missense |
unknown |
|
|
R9422:4930562C15Rik
|
UTSW |
16 |
4,667,153 (GRCm39) |
missense |
|
|
|
R9561:4930562C15Rik
|
UTSW |
16 |
4,680,980 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9618:4930562C15Rik
|
UTSW |
16 |
4,667,418 (GRCm39) |
missense |
unknown |
|
|
R9747:4930562C15Rik
|
UTSW |
16 |
4,668,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:4930562C15Rik
|
UTSW |
16 |
4,668,057 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0028:4930562C15Rik
|
UTSW |
16 |
4,685,231 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:4930562C15Rik
|
UTSW |
16 |
4,684,112 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTCCGGTGAGCGGAAAAG -3'
(R):5'- AGGCCAATAGTTACCCCTAGCCAAG -3'
Sequencing Primer
(F):5'- CGGAAAAGGAAGACTGGGATAC -3'
(R):5'- TAGCCAAGCCTCTTGGTAAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation