Incidental Mutation 'R1271:4930447C04Rik'
| ID |
151318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930447C04Rik
|
| Ensembl Gene |
ENSMUSG00000021098 |
| Gene Name |
RIKEN cDNA 4930447C04 gene |
| Synonyms |
Six6os1, Six6as |
| MMRRC Submission |
039337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R1271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
72926967-72964742 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72939657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 419
(F419I)
|
| 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: F418I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035376
Gene: ENSMUSG00000021098
AA Change: F418I
| 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: F419I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106115
Gene: ENSMUSG00000021098
AA Change: F419I
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
A |
T |
1: 52,964,493 (GRCm39) |
D78E |
possibly damaging |
Het |
| Abca14 |
T |
C |
7: 119,924,340 (GRCm39) |
V1664A |
probably damaging |
Het |
| Acadvl |
A |
G |
11: 69,905,526 (GRCm39) |
S71P |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,790,617 (GRCm39) |
C916S |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,989,985 (GRCm39) |
T164A |
probably benign |
Het |
| Ccdc18 |
A |
T |
5: 108,349,982 (GRCm39) |
K1045* |
probably null |
Het |
| Cemip2 |
T |
A |
19: 21,801,268 (GRCm39) |
I795N |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,728,183 (GRCm39) |
E1525K |
probably benign |
Het |
| Cfap43 |
G |
T |
19: 47,736,387 (GRCm39) |
S1368Y |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,874,455 (GRCm39) |
I610L |
probably benign |
Het |
| Des |
A |
T |
1: 75,337,290 (GRCm39) |
T77S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,394,123 (GRCm39) |
V853A |
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,934,487 (GRCm39) |
D292V |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,966,859 (GRCm39) |
N26S |
probably benign |
Het |
| Gpsm1 |
G |
T |
2: 26,234,684 (GRCm39) |
R507L |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,137 (GRCm39) |
T155S |
probably benign |
Het |
| Hapln3 |
T |
C |
7: 78,767,764 (GRCm39) |
D210G |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,030,762 (GRCm39) |
L1222P |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,832 (GRCm39) |
|
probably null |
Het |
| Mup6 |
A |
T |
4: 60,003,579 (GRCm39) |
|
probably benign |
Het |
| Nsmce1 |
T |
A |
7: 125,070,426 (GRCm39) |
E128D |
probably damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,475 (GRCm39) |
Y175* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,249,004 (GRCm39) |
S733T |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,013 (GRCm39) |
I377K |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,274 (GRCm39) |
L41Q |
probably damaging |
Het |
| Tut7 |
A |
C |
13: 59,969,669 (GRCm39) |
N75K |
probably damaging |
Het |
| Usp28 |
G |
A |
9: 48,947,261 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCAACCATCAGAAAGacaaacaa -3'
(R):5'- acctgtgacacAGATCCAGATTATAGCA -3'
Sequencing Primer
(F):5'- acaaacaagcaaacaaacaaaaaac -3'
(R):5'- ATGGTGCATTCTACCTTATGCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation