Incidental Mutation 'R6002:4932414N04Rik'
| ID |
482041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4932414N04Rik
|
| Ensembl Gene |
ENSMUSG00000079324 |
| Gene Name |
RIKEN cDNA 4932414N04 gene |
| Synonyms |
|
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 68492768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000055930]
[ENSMUST00000055930]
[ENSMUST00000055930]
[ENSMUST00000055930]
[ENSMUST00000125621]
[ENSMUST00000125621]
[ENSMUST00000125621]
[ENSMUST00000128259]
[ENSMUST00000128259]
[ENSMUST00000128259]
[ENSMUST00000128259]
|
| AlphaFold |
Q8CEQ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055930
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055930
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055930
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055930
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055930
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112332
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128259
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
|
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128259
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
|
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128259
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
|
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128259
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
|
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
probably damaging |
Het |
|
| Other mutations in 4932414N04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:4932414N04Rik
|
APN |
2 |
68,563,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01384:4932414N04Rik
|
APN |
2 |
68,575,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02170:4932414N04Rik
|
APN |
2 |
68,561,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02650:4932414N04Rik
|
APN |
2 |
68,571,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02707:4932414N04Rik
|
APN |
2 |
68,561,474 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02737:4932414N04Rik
|
APN |
2 |
68,566,904 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03351:4932414N04Rik
|
APN |
2 |
68,561,427 (GRCm39) |
missense |
probably benign |
|
|
R0328:4932414N04Rik
|
UTSW |
2 |
68,574,624 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0362:4932414N04Rik
|
UTSW |
2 |
68,563,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0638:4932414N04Rik
|
UTSW |
2 |
68,547,572 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1201:4932414N04Rik
|
UTSW |
2 |
68,546,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1381:4932414N04Rik
|
UTSW |
2 |
68,561,430 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1456:4932414N04Rik
|
UTSW |
2 |
68,546,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2001:4932414N04Rik
|
UTSW |
2 |
68,571,800 (GRCm39) |
missense |
probably benign |
|
|
R2051:4932414N04Rik
|
UTSW |
2 |
68,541,392 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2228:4932414N04Rik
|
UTSW |
2 |
68,559,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2292:4932414N04Rik
|
UTSW |
2 |
68,562,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2357:4932414N04Rik
|
UTSW |
2 |
68,569,844 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2484:4932414N04Rik
|
UTSW |
2 |
68,541,819 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3035:4932414N04Rik
|
UTSW |
2 |
68,575,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3916:4932414N04Rik
|
UTSW |
2 |
68,562,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3950:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3951:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3952:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4091:4932414N04Rik
|
UTSW |
2 |
68,575,722 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4118:4932414N04Rik
|
UTSW |
2 |
68,566,857 (GRCm39) |
missense |
probably benign |
|
|
R4153:4932414N04Rik
|
UTSW |
2 |
68,498,941 (GRCm39) |
intron |
probably benign |
|
|
R4210:4932414N04Rik
|
UTSW |
2 |
68,490,222 (GRCm39) |
start gained |
probably benign |
|
|
R4614:4932414N04Rik
|
UTSW |
2 |
68,575,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4818:4932414N04Rik
|
UTSW |
2 |
68,571,810 (GRCm39) |
missense |
probably benign |
|
|
R5202:4932414N04Rik
|
UTSW |
2 |
68,562,308 (GRCm39) |
missense |
probably benign |
|
|
R5466:4932414N04Rik
|
UTSW |
2 |
68,541,733 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5585:4932414N04Rik
|
UTSW |
2 |
68,571,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5602:4932414N04Rik
|
UTSW |
2 |
68,578,712 (GRCm39) |
makesense |
probably null |
|
|
R5846:4932414N04Rik
|
UTSW |
2 |
68,562,377 (GRCm39) |
missense |
unknown |
|
|
R5902:4932414N04Rik
|
UTSW |
2 |
68,539,281 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6029:4932414N04Rik
|
UTSW |
2 |
68,524,370 (GRCm39) |
splice site |
probably null |
|
|
R6093:4932414N04Rik
|
UTSW |
2 |
68,490,214 (GRCm39) |
splice site |
probably benign |
|
|
R6168:4932414N04Rik
|
UTSW |
2 |
68,571,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6300:4932414N04Rik
|
UTSW |
2 |
68,561,453 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6322:4932414N04Rik
|
UTSW |
2 |
68,559,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6533:4932414N04Rik
|
UTSW |
2 |
68,546,662 (GRCm39) |
nonsense |
probably null |
|
|
R6547:4932414N04Rik
|
UTSW |
2 |
68,490,251 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7309:4932414N04Rik
|
UTSW |
2 |
68,546,530 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7400:4932414N04Rik
|
UTSW |
2 |
68,496,547 (GRCm39) |
missense |
unknown |
|
|
R7454:4932414N04Rik
|
UTSW |
2 |
68,518,648 (GRCm39) |
missense |
unknown |
|
|
R7481:4932414N04Rik
|
UTSW |
2 |
68,494,575 (GRCm39) |
missense |
unknown |
|
|
R7498:4932414N04Rik
|
UTSW |
2 |
68,498,012 (GRCm39) |
missense |
unknown |
|
|
R7523:4932414N04Rik
|
UTSW |
2 |
68,569,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7523:4932414N04Rik
|
UTSW |
2 |
68,492,824 (GRCm39) |
missense |
unknown |
|
|
R7583:4932414N04Rik
|
UTSW |
2 |
68,569,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7701:4932414N04Rik
|
UTSW |
2 |
68,561,548 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7746:4932414N04Rik
|
UTSW |
2 |
68,559,339 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7778:4932414N04Rik
|
UTSW |
2 |
68,569,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7985:4932414N04Rik
|
UTSW |
2 |
68,494,693 (GRCm39) |
missense |
unknown |
|
|
R8525:4932414N04Rik
|
UTSW |
2 |
68,559,378 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8765:4932414N04Rik
|
UTSW |
2 |
68,566,956 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8906:4932414N04Rik
|
UTSW |
2 |
68,562,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9406:4932414N04Rik
|
UTSW |
2 |
68,498,019 (GRCm39) |
missense |
unknown |
|
|
R9627:4932414N04Rik
|
UTSW |
2 |
68,487,834 (GRCm39) |
unclassified |
probably benign |
|
|
X0025:4932414N04Rik
|
UTSW |
2 |
68,559,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGACCTTCTAGGCCTTC -3'
(R):5'- GTGTGTGCAGAAACTATTGGAAATC -3'
Sequencing Primer
(F):5'- CCTATAGCATGCAGTCATATG -3'
(R):5'- TGCATTTATCCTTTCAAATGTTGC -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation