Incidental Mutation 'IGL00801:4930447C04Rik'
| ID |
8464 |
| 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: 0.203)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72926967-72964742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72928160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 524
(T524A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044000]
[ENSMUST00000110489]
|
| AlphaFold |
Q9CTN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044000
AA Change: T523A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: T523A
| 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 |
possibly damaging
Transcript: ENSMUST00000110489
AA Change: T524A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: T524A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S6OS1
|
31 |
575 |
1.1e-277 |
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in 4930447C04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:4930447C04Rik
|
APN |
12 |
72,954,644 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02352:4930447C04Rik
|
APN |
12 |
72,941,829 (GRCm39) |
splice site |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation