Incidental Mutation 'R5585:4932414N04Rik'
ID |
438643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4932414N04Rik
|
Ensembl Gene |
ENSMUSG00000079324 |
Gene Name |
RIKEN cDNA 4932414N04 gene |
Synonyms |
|
MMRRC Submission |
043139-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5585 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68571770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 549
(T549A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000128259]
|
AlphaFold |
Q8CEQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055930
AA Change: T549A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059809 Gene: ENSMUSG00000079324 AA Change: T549A
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 benign
Transcript: ENSMUST00000128259
AA Change: T549A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135792 Gene: ENSMUSG00000079324 AA Change: T549A
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
Nedd9 |
A |
G |
13: 41,469,950 (GRCm39) |
L401P |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,064,212 (GRCm39) |
L163P |
probably damaging |
Het |
Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
Psmd3 |
G |
A |
11: 98,573,707 (GRCm39) |
G51D |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
Rnf167 |
T |
C |
11: 70,540,308 (GRCm39) |
V110A |
probably damaging |
Het |
Rrp9 |
C |
T |
9: 106,362,525 (GRCm39) |
S470F |
probably benign |
Het |
Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
probably benign |
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 |
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 |
|
R6002:4932414N04Rik
|
UTSW |
2 |
68,492,768 (GRCm39) |
splice site |
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'- TCTGGAAAACTGTCTCTAGCAG -3'
(R):5'- GCACAACTCACCCTGTTTGG -3'
Sequencing Primer
(F):5'- TCAGCTTGAAACCCACAATTTG -3'
(R):5'- CCTGTTTGGGAAGCTCAATGAATTC -3'
|
Posted On |
2016-10-26 |