Incidental Mutation 'R4210:4932414N04Rik'
ID |
319104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4932414N04Rik
|
Ensembl Gene |
ENSMUSG00000079324 |
Gene Name |
RIKEN cDNA 4932414N04 gene |
Synonyms |
|
MMRRC Submission |
041039-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4210 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to T
at 68490222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000125621]
[ENSMUST00000128259]
|
AlphaFold |
Q8CEQ9 |
Predicted Effect |
probably benign
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 |
unknown
Transcript: ENSMUST00000125621
AA Change: T6I
|
Predicted Effect |
probably benign
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
C |
2: 31,691,708 (GRCm39) |
Y1076H |
probably damaging |
Het |
Adamts7 |
C |
T |
9: 90,076,063 (GRCm39) |
T1265I |
possibly damaging |
Het |
Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,833,402 (GRCm39) |
I529N |
possibly damaging |
Het |
Bbof1 |
T |
C |
12: 84,455,957 (GRCm39) |
M1T |
probably null |
Het |
Clcc1 |
A |
T |
3: 108,570,907 (GRCm39) |
Y105F |
possibly damaging |
Het |
Cmpk2 |
G |
T |
12: 26,519,570 (GRCm39) |
A74S |
probably benign |
Het |
Colgalt1 |
G |
A |
8: 72,075,350 (GRCm39) |
V419I |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,364,414 (GRCm39) |
S2403P |
probably damaging |
Het |
D930048N14Rik |
G |
A |
11: 51,545,632 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,176,578 (GRCm39) |
C733S |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,504,490 (GRCm39) |
V211M |
possibly damaging |
Het |
Ephx2 |
T |
C |
14: 66,322,393 (GRCm39) |
T525A |
probably damaging |
Het |
Eya4 |
A |
G |
10: 23,102,698 (GRCm39) |
|
probably null |
Het |
Foxc1 |
T |
C |
13: 31,991,690 (GRCm39) |
F167S |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
Gm6370 |
C |
A |
5: 146,430,734 (GRCm39) |
F306L |
possibly damaging |
Het |
Hmgcr |
A |
G |
13: 96,796,729 (GRCm39) |
V187A |
probably damaging |
Het |
Igkv9-129 |
T |
A |
6: 67,817,242 (GRCm39) |
S114R |
possibly damaging |
Het |
Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
Ikzf3 |
T |
C |
11: 98,381,313 (GRCm39) |
Y89C |
probably benign |
Het |
Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,389,999 (GRCm39) |
|
probably benign |
Het |
Itga3 |
C |
A |
11: 94,953,449 (GRCm39) |
V298L |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
Lbh |
T |
A |
17: 73,228,178 (GRCm39) |
|
probably null |
Het |
Lrba |
G |
A |
3: 86,267,433 (GRCm39) |
G1708S |
probably damaging |
Het |
Lrig2 |
C |
T |
3: 104,374,620 (GRCm39) |
V154I |
probably benign |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,875,713 (GRCm39) |
F1318L |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,323,991 (GRCm39) |
V545A |
probably benign |
Het |
Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
Or2w1 |
A |
T |
13: 21,317,607 (GRCm39) |
I221L |
possibly damaging |
Het |
Or6n2 |
G |
A |
1: 173,897,574 (GRCm39) |
A237T |
probably damaging |
Het |
Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
Pdlim4 |
T |
G |
11: 53,946,744 (GRCm39) |
D181A |
possibly damaging |
Het |
Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
A |
9: 105,527,957 (GRCm39) |
A437T |
possibly damaging |
Het |
Proser3 |
G |
A |
7: 30,245,525 (GRCm39) |
|
probably benign |
Het |
Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
Rnf152 |
A |
G |
1: 105,212,077 (GRCm39) |
V160A |
probably benign |
Het |
Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,854,073 (GRCm39) |
T652A |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,962,962 (GRCm39) |
Y1054C |
probably damaging |
Het |
Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,441,835 (GRCm39) |
H1948Q |
probably benign |
Het |
Stap2 |
G |
T |
17: 56,304,827 (GRCm39) |
Y318* |
probably null |
Het |
Sytl1 |
T |
C |
4: 132,980,876 (GRCm39) |
D421G |
probably damaging |
Het |
Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,802,439 (GRCm39) |
G374D |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,806,080 (GRCm39) |
S291P |
probably damaging |
Het |
Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,951 (GRCm39) |
I2895T |
possibly damaging |
Het |
Tsbp1 |
G |
T |
17: 34,679,257 (GRCm39) |
|
probably benign |
Het |
Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
Uxs1 |
T |
A |
1: 43,789,398 (GRCm39) |
H419L |
possibly damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
Zc3h14 |
A |
G |
12: 98,751,658 (GRCm39) |
H199R |
probably damaging |
Het |
Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
Zfp976 |
A |
G |
7: 42,265,749 (GRCm39) |
F12S |
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 |
|
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 |
|
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'- CCCTCTTTTGATCTATGAAGGCAA -3'
(R):5'- GAGACCTGGAAAGGTGATAACAT -3'
Sequencing Primer
(F):5'- GGCAATCACATTCTGGAACATG -3'
(R):5'- CTGGAAAGGTGATAACATTTGAAATG -3'
|
Posted On |
2015-06-10 |