Incidental Mutation 'IGL02352:4930447C04Rik'
ID |
289548 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
4930447C04Rik
|
Ensembl Gene |
ENSMUSG00000021098 |
Gene Name |
RIKEN cDNA 4930447C04 gene |
Synonyms |
Six6os1, Six6as |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.161)
|
Stock # |
IGL02352
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
72926967-72964742 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 72941829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044000]
[ENSMUST00000044000]
[ENSMUST00000110489]
[ENSMUST00000110489]
|
AlphaFold |
Q9CTN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044000
|
SMART Domains |
Protein: ENSMUSP00000035376 Gene: ENSMUSG00000021098
Domain | Start | End | E-Value | Type |
low complexity region
|
137 |
147 |
N/A |
INTRINSIC |
coiled coil region
|
197 |
233 |
N/A |
INTRINSIC |
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
low complexity region
|
522 |
534 |
N/A |
INTRINSIC |
low complexity region
|
552 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000044000
|
SMART Domains |
Protein: ENSMUSP00000035376 Gene: ENSMUSG00000021098
Domain | Start | End | E-Value | Type |
low complexity region
|
137 |
147 |
N/A |
INTRINSIC |
coiled coil region
|
197 |
233 |
N/A |
INTRINSIC |
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
low complexity region
|
522 |
534 |
N/A |
INTRINSIC |
low complexity region
|
552 |
565 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110489
|
SMART Domains |
Protein: ENSMUSP00000106115 Gene: ENSMUSG00000021098
Domain | Start | End | E-Value | Type |
Pfam:S6OS1
|
31 |
575 |
1.1e-277 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110489
|
SMART Domains |
Protein: ENSMUSP00000106115 Gene: ENSMUSG00000021098
Domain | Start | End | E-Value | Type |
Pfam:S6OS1
|
31 |
575 |
1.1e-277 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132901
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143960
|
SMART Domains |
Protein: ENSMUSP00000116391 Gene: ENSMUSG00000021098
Domain | Start | End | E-Value | Type |
Pfam:S6OS1
|
1 |
70 |
6.1e-21 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with meiotic arrest and defective synaptic formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
Cdk5rap3 |
A |
T |
11: 96,807,003 (GRCm39) |
I9N |
probably damaging |
Het |
Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
Het |
|
Other mutations in 4930447C04Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:4930447C04Rik
|
APN |
12 |
72,928,160 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01611:4930447C04Rik
|
APN |
12 |
72,954,644 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02359:4930447C04Rik
|
APN |
12 |
72,941,829 (GRCm39) |
splice site |
probably null |
|
FR4304:4930447C04Rik
|
UTSW |
12 |
72,928,061 (GRCm39) |
small deletion |
probably benign |
|
R0650:4930447C04Rik
|
UTSW |
12 |
72,956,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R0651:4930447C04Rik
|
UTSW |
12 |
72,956,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R1271:4930447C04Rik
|
UTSW |
12 |
72,939,657 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1321:4930447C04Rik
|
UTSW |
12 |
72,945,318 (GRCm39) |
splice site |
probably benign |
|
R1387:4930447C04Rik
|
UTSW |
12 |
72,962,208 (GRCm39) |
missense |
probably benign |
0.04 |
R1424:4930447C04Rik
|
UTSW |
12 |
72,939,669 (GRCm39) |
nonsense |
probably null |
|
R1440:4930447C04Rik
|
UTSW |
12 |
72,928,195 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1538:4930447C04Rik
|
UTSW |
12 |
72,928,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1694:4930447C04Rik
|
UTSW |
12 |
72,931,992 (GRCm39) |
splice site |
probably null |
|
R1888:4930447C04Rik
|
UTSW |
12 |
72,960,030 (GRCm39) |
missense |
unknown |
|
R1888:4930447C04Rik
|
UTSW |
12 |
72,960,030 (GRCm39) |
missense |
unknown |
|
R2151:4930447C04Rik
|
UTSW |
12 |
72,954,725 (GRCm39) |
splice site |
probably null |
|
R4930:4930447C04Rik
|
UTSW |
12 |
72,953,008 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4967:4930447C04Rik
|
UTSW |
12 |
72,956,502 (GRCm39) |
nonsense |
probably null |
|
R5243:4930447C04Rik
|
UTSW |
12 |
72,956,543 (GRCm39) |
critical splice donor site |
probably null |
|
R6312:4930447C04Rik
|
UTSW |
12 |
72,936,541 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6825:4930447C04Rik
|
UTSW |
12 |
72,954,654 (GRCm39) |
missense |
probably benign |
0.32 |
R7275:4930447C04Rik
|
UTSW |
12 |
72,956,795 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8427:4930447C04Rik
|
UTSW |
12 |
72,950,060 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8669:4930447C04Rik
|
UTSW |
12 |
72,949,234 (GRCm39) |
missense |
probably benign |
0.32 |
R8674:4930447C04Rik
|
UTSW |
12 |
72,956,696 (GRCm39) |
missense |
probably benign |
0.00 |
R9065:4930447C04Rik
|
UTSW |
12 |
72,939,604 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9801:4930447C04Rik
|
UTSW |
12 |
72,945,540 (GRCm39) |
missense |
probably benign |
0.12 |
RF041:4930447C04Rik
|
UTSW |
12 |
72,928,050 (GRCm39) |
small deletion |
probably benign |
|
Z1088:4930447C04Rik
|
UTSW |
12 |
72,986,169 (GRCm39) |
unclassified |
probably benign |
|
Z1176:4930447C04Rik
|
UTSW |
12 |
72,963,500 (GRCm39) |
missense |
probably benign |
0.18 |
|
Posted On |
2015-04-16 |