Incidental Mutation 'R6160:Gm12185'
ID |
489817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm12185
|
Ensembl Gene |
ENSMUSG00000048852 |
Gene Name |
predicted gene 12185 |
Synonyms |
|
MMRRC Submission |
044307-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6160 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 48799255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 413
(Q413*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000094476]
|
AlphaFold |
Q5NCB2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059930
AA Change: Q413*
|
SMART Domains |
Protein: ENSMUSP00000054351 Gene: ENSMUSG00000048852 AA Change: Q413*
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
27 |
389 |
8.4e-123 |
PFAM |
Pfam:MMR_HSR1
|
63 |
190 |
2.2e-9 |
PFAM |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
Pfam:IIGP
|
438 |
811 |
3.4e-152 |
PFAM |
Pfam:MMR_HSR1
|
474 |
632 |
1.4e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000094476
AA Change: Q413*
|
SMART Domains |
Protein: ENSMUSP00000092049 Gene: ENSMUSG00000048852 AA Change: Q413*
Domain | Start | End | E-Value | Type |
Pfam:IIGP
|
27 |
389 |
1e-122 |
PFAM |
Pfam:DLIC
|
43 |
98 |
3.2e-5 |
PFAM |
Pfam:MMR_HSR1
|
63 |
187 |
6e-9 |
PFAM |
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
Pfam:IIGP
|
438 |
811 |
8.9e-153 |
PFAM |
Pfam:MMR_HSR1
|
474 |
615 |
2.6e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
94% (62/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
Itgb1 |
T |
A |
8: 129,446,764 (GRCm39) |
F426L |
possibly damaging |
Het |
Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
probably damaging |
Het |
|
Other mutations in Gm12185 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Gm12185
|
APN |
11 |
48,798,049 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00495:Gm12185
|
APN |
11 |
48,798,688 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01763:Gm12185
|
APN |
11 |
48,806,671 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01919:Gm12185
|
APN |
11 |
48,798,886 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03388:Gm12185
|
APN |
11 |
48,799,113 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03404:Gm12185
|
APN |
11 |
48,798,864 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Gm12185
|
UTSW |
11 |
48,798,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Gm12185
|
UTSW |
11 |
48,806,009 (GRCm39) |
missense |
probably benign |
0.29 |
R0488:Gm12185
|
UTSW |
11 |
48,798,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1168:Gm12185
|
UTSW |
11 |
48,806,182 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1223:Gm12185
|
UTSW |
11 |
48,798,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R1417:Gm12185
|
UTSW |
11 |
48,798,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Gm12185
|
UTSW |
11 |
48,806,501 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1468:Gm12185
|
UTSW |
11 |
48,806,501 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1519:Gm12185
|
UTSW |
11 |
48,798,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Gm12185
|
UTSW |
11 |
48,806,262 (GRCm39) |
missense |
probably damaging |
0.99 |
R1630:Gm12185
|
UTSW |
11 |
48,798,717 (GRCm39) |
missense |
probably benign |
0.31 |
R1758:Gm12185
|
UTSW |
11 |
48,798,859 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1793:Gm12185
|
UTSW |
11 |
48,806,583 (GRCm39) |
nonsense |
probably null |
|
R1908:Gm12185
|
UTSW |
11 |
48,806,231 (GRCm39) |
missense |
probably benign |
0.00 |
R1983:Gm12185
|
UTSW |
11 |
48,806,183 (GRCm39) |
missense |
probably benign |
0.01 |
R3917:Gm12185
|
UTSW |
11 |
48,806,760 (GRCm39) |
missense |
probably benign |
0.01 |
R3969:Gm12185
|
UTSW |
11 |
48,798,172 (GRCm39) |
missense |
probably benign |
0.03 |
R3970:Gm12185
|
UTSW |
11 |
48,798,172 (GRCm39) |
missense |
probably benign |
0.03 |
R4510:Gm12185
|
UTSW |
11 |
48,799,305 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4511:Gm12185
|
UTSW |
11 |
48,799,305 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4529:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4529:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4532:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4532:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Gm12185
|
UTSW |
11 |
48,798,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Gm12185
|
UTSW |
11 |
48,798,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4678:Gm12185
|
UTSW |
11 |
48,806,367 (GRCm39) |
missense |
probably benign |
0.05 |
R5094:Gm12185
|
UTSW |
11 |
48,798,375 (GRCm39) |
missense |
probably benign |
0.35 |
R5238:Gm12185
|
UTSW |
11 |
48,799,044 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5306:Gm12185
|
UTSW |
11 |
48,806,382 (GRCm39) |
missense |
probably benign |
0.03 |
R5371:Gm12185
|
UTSW |
11 |
48,806,566 (GRCm39) |
missense |
probably benign |
0.01 |
R5995:Gm12185
|
UTSW |
11 |
48,806,540 (GRCm39) |
missense |
probably benign |
0.40 |
R6113:Gm12185
|
UTSW |
11 |
48,806,167 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6147:Gm12185
|
UTSW |
11 |
48,806,717 (GRCm39) |
missense |
probably benign |
|
R6247:Gm12185
|
UTSW |
11 |
48,806,735 (GRCm39) |
missense |
probably damaging |
0.98 |
R6264:Gm12185
|
UTSW |
11 |
48,807,002 (GRCm39) |
missense |
probably benign |
0.01 |
R6748:Gm12185
|
UTSW |
11 |
48,807,123 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6765:Gm12185
|
UTSW |
11 |
48,806,531 (GRCm39) |
missense |
probably benign |
0.12 |
R6970:Gm12185
|
UTSW |
11 |
48,798,739 (GRCm39) |
nonsense |
probably null |
|
R7028:Gm12185
|
UTSW |
11 |
48,799,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7033:Gm12185
|
UTSW |
11 |
48,806,826 (GRCm39) |
missense |
probably benign |
|
R7512:Gm12185
|
UTSW |
11 |
48,806,717 (GRCm39) |
missense |
probably benign |
|
R7609:Gm12185
|
UTSW |
11 |
48,806,850 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7673:Gm12185
|
UTSW |
11 |
48,798,455 (GRCm39) |
missense |
probably benign |
0.45 |
R8848:Gm12185
|
UTSW |
11 |
48,806,280 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9578:Gm12185
|
UTSW |
11 |
48,806,408 (GRCm39) |
missense |
probably benign |
|
R9580:Gm12185
|
UTSW |
11 |
48,799,192 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9712:Gm12185
|
UTSW |
11 |
48,798,216 (GRCm39) |
missense |
probably benign |
0.03 |
R9760:Gm12185
|
UTSW |
11 |
48,806,168 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Gm12185
|
UTSW |
11 |
48,798,913 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Gm12185
|
UTSW |
11 |
48,807,129 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTCACAGCAATGTTCAG -3'
(R):5'- ACATTGACCCAGCAGCTAGG -3'
Sequencing Primer
(F):5'- TCACAGCAATGTTCAGTGGGG -3'
(R):5'- TTGACCCAGCAGCTAGGAACAG -3'
|
Posted On |
2017-10-10 |