Incidental Mutation 'R6504:1700006A11Rik'
ID |
523598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
1700006A11Rik
|
Ensembl Gene |
ENSMUSG00000027973 |
Gene Name |
RIKEN cDNA 1700006A11 gene |
Synonyms |
|
MMRRC Submission |
044636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6504 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
124194639-124219688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124213569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 31
(T31A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029598]
[ENSMUST00000198630]
|
AlphaFold |
B9EHI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029598
AA Change: T31A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029598 Gene: ENSMUSG00000027973 AA Change: T31A
Domain | Start | End | E-Value | Type |
RhoGAP
|
78 |
251 |
3.63e-37 |
SMART |
RhoGAP
|
377 |
543 |
3.19e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198630
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
Het |
|
Other mutations in 1700006A11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:1700006A11Rik
|
APN |
3 |
124,195,058 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02552:1700006A11Rik
|
APN |
3 |
124,208,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:1700006A11Rik
|
APN |
3 |
124,200,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:1700006A11Rik
|
UTSW |
3 |
124,203,427 (GRCm39) |
splice site |
probably benign |
|
R0097:1700006A11Rik
|
UTSW |
3 |
124,206,129 (GRCm39) |
missense |
probably benign |
0.13 |
R0097:1700006A11Rik
|
UTSW |
3 |
124,206,129 (GRCm39) |
missense |
probably benign |
0.13 |
R0184:1700006A11Rik
|
UTSW |
3 |
124,212,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0361:1700006A11Rik
|
UTSW |
3 |
124,207,283 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1542:1700006A11Rik
|
UTSW |
3 |
124,208,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1549:1700006A11Rik
|
UTSW |
3 |
124,210,441 (GRCm39) |
missense |
probably benign |
0.00 |
R1779:1700006A11Rik
|
UTSW |
3 |
124,200,163 (GRCm39) |
missense |
probably damaging |
0.99 |
R1839:1700006A11Rik
|
UTSW |
3 |
124,203,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R1986:1700006A11Rik
|
UTSW |
3 |
124,212,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R2042:1700006A11Rik
|
UTSW |
3 |
124,210,377 (GRCm39) |
splice site |
probably benign |
|
R2149:1700006A11Rik
|
UTSW |
3 |
124,203,335 (GRCm39) |
missense |
probably benign |
0.33 |
R2258:1700006A11Rik
|
UTSW |
3 |
124,207,267 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2291:1700006A11Rik
|
UTSW |
3 |
124,207,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:1700006A11Rik
|
UTSW |
3 |
124,200,102 (GRCm39) |
missense |
probably benign |
0.44 |
R4912:1700006A11Rik
|
UTSW |
3 |
124,213,505 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5074:1700006A11Rik
|
UTSW |
3 |
124,210,482 (GRCm39) |
missense |
probably benign |
0.01 |
R5303:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5308:1700006A11Rik
|
UTSW |
3 |
124,199,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R5796:1700006A11Rik
|
UTSW |
3 |
124,215,077 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6018:1700006A11Rik
|
UTSW |
3 |
124,210,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R6198:1700006A11Rik
|
UTSW |
3 |
124,210,499 (GRCm39) |
splice site |
probably null |
|
R7124:1700006A11Rik
|
UTSW |
3 |
124,208,042 (GRCm39) |
missense |
probably benign |
0.04 |
R7248:1700006A11Rik
|
UTSW |
3 |
124,207,959 (GRCm39) |
critical splice donor site |
probably null |
|
R7351:1700006A11Rik
|
UTSW |
3 |
124,206,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:1700006A11Rik
|
UTSW |
3 |
124,201,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:1700006A11Rik
|
UTSW |
3 |
124,206,180 (GRCm39) |
missense |
probably benign |
0.00 |
R8193:1700006A11Rik
|
UTSW |
3 |
124,213,517 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8201:1700006A11Rik
|
UTSW |
3 |
124,195,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9157:1700006A11Rik
|
UTSW |
3 |
124,207,220 (GRCm39) |
missense |
probably benign |
0.22 |
R9313:1700006A11Rik
|
UTSW |
3 |
124,207,220 (GRCm39) |
missense |
probably benign |
0.22 |
R9585:1700006A11Rik
|
UTSW |
3 |
124,199,993 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9683:1700006A11Rik
|
UTSW |
3 |
124,200,095 (GRCm39) |
missense |
probably benign |
0.01 |
R9721:1700006A11Rik
|
UTSW |
3 |
124,212,932 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:1700006A11Rik
|
UTSW |
3 |
124,213,511 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCAGTATTTTGTCTTCAGGGTG -3'
(R):5'- CAGTGTTGAGTCTAGGGCAG -3'
Sequencing Primer
(F):5'- CTTCAGGGTGGCTAGGGAAG -3'
(R):5'- AAAAACTCCCACATGCTACAAC -3'
|
Posted On |
2018-06-22 |