Incidental Mutation 'R4506:1700012B07Rik'
| ID |
332030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700012B07Rik
|
| Ensembl Gene |
ENSMUSG00000020617 |
| Gene Name |
RIKEN cDNA 1700012B07 gene |
| Synonyms |
|
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109787651-109828046 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109794261 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 137
(P137T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020941]
[ENSMUST00000106674]
[ENSMUST00000143578]
|
| AlphaFold |
Q3V0S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020941
AA Change: P137T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: P137T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106674
AA Change: P137T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: P137T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143578
|
| SMART Domains |
Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147006
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,333,695 |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,976,666 |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,118,444 |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,835,730 |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,073,761 |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,865,237 |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,499,476 |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,086,174 |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,688,603 |
|
probably null |
Het |
| Fgfr3 |
A |
G |
5: 33,729,999 |
T221A |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,054,478 |
|
noncoding transcript |
Het |
| Gm8909 |
A |
T |
17: 36,161,480 |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,826,999 |
M970K |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,145,180 |
L298Q |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,432,686 |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 122,888,625 |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,246,256 |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,922,178 |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,543,459 |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,748,883 |
|
probably benign |
Het |
| Olfr160 |
C |
T |
9: 37,711,464 |
V272I |
probably benign |
Het |
| Olfr393 |
A |
T |
11: 73,847,695 |
C143* |
probably null |
Het |
| Parp4 |
T |
A |
14: 56,652,304 |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,816,763 |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,725,963 |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,858,516 |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 121,887,495 |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,453,420 |
T88S |
probably damaging |
Het |
| Tbrg1 |
T |
A |
9: 37,654,395 |
E87V |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,417,174 |
S145P |
probably damaging |
Het |
| Tomm34 |
C |
A |
2: 164,054,372 |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,295,324 |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,337,566 |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,702,925 |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,308,819 |
V137M |
probably damaging |
Het |
| Zfp276 |
G |
A |
8: 123,264,927 |
|
probably null |
Het |
| Zfp90 |
C |
T |
8: 106,424,864 |
P403L |
possibly damaging |
Het |
|
| Other mutations in 1700012B07Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:1700012B07Rik
|
APN |
11 |
109,794,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03006:1700012B07Rik
|
APN |
11 |
109,827,845 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0626:1700012B07Rik
|
UTSW |
11 |
109,788,721 (GRCm38) |
unclassified |
probably benign |
|
|
R1566:1700012B07Rik
|
UTSW |
11 |
109,788,806 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1654:1700012B07Rik
|
UTSW |
11 |
109,797,399 (GRCm38) |
missense |
probably benign |
0.36 |
|
R2373:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R2405:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R2410:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R2411:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3707:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3708:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3732:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3745:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3783:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3784:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3785:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3805:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3806:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3922:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R3926:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4085:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4089:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4110:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4111:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4112:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4171:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R4825:1700012B07Rik
|
UTSW |
11 |
109,791,672 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5032:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R5033:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R5971:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R6078:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R6079:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R6138:1700012B07Rik
|
UTSW |
11 |
109,794,154 (GRCm38) |
nonsense |
probably null |
|
|
R6354:1700012B07Rik
|
UTSW |
11 |
109,794,216 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8752:1700012B07Rik
|
UTSW |
11 |
109,813,570 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9288:1700012B07Rik
|
UTSW |
11 |
109,813,618 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGAAAAGGATGAAGACCCG -3'
(R):5'- CTTCTCAGAGCAAGTGGAGG -3'
Sequencing Primer
(F):5'- GCCCCCGAGGACTTAATCTG -3'
(R):5'- AGGGCGTGGCTCTTTCCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation