Incidental Mutation 'R9578:Gm12185'
| ID |
722422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12185
|
| Ensembl Gene |
ENSMUSG00000048852 |
| Gene Name |
predicted gene 12185 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R9578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
48795483-48818009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48806408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 261
(N261I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059930]
[ENSMUST00000094476]
|
| AlphaFold |
Q5NCB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059930
AA Change: N261I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852
AA Change: N261I
| 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 benign
Transcript: ENSMUST00000094476
AA Change: N261I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092049
Gene: ENSMUSG00000048852
AA Change: N261I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
G |
A |
8: 106,436,505 (GRCm39) |
G234S |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,253,281 (GRCm39) |
I14M |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,670,125 (GRCm39) |
S333P |
possibly damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,220,754 (GRCm39) |
D180E |
probably benign |
Het |
| B3gnt8 |
T |
C |
7: 25,328,089 (GRCm39) |
L173P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,590,185 (GRCm39) |
F37S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,293 (GRCm39) |
|
probably null |
Het |
| Cfi |
G |
T |
3: 129,659,024 (GRCm39) |
M327I |
probably benign |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,789,350 (GRCm39) |
G854D |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,282,919 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,602,234 (GRCm39) |
N23K |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,528,734 (GRCm39) |
I807T |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,502,007 (GRCm39) |
F1770L |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,115,726 (GRCm39) |
F28L |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,728,612 (GRCm39) |
D269G |
probably damaging |
Het |
| Dusp4 |
G |
T |
8: 35,274,822 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,641,133 (GRCm39) |
S19P |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,905 (GRCm39) |
D243G |
possibly damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,989 (GRCm39) |
C178R |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,669,183 (GRCm39) |
F362I |
possibly damaging |
Het |
| Icos |
T |
A |
1: 61,032,871 (GRCm39) |
N23K |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
C |
15: 101,620,153 (GRCm39) |
K188R |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,715 (GRCm39) |
|
probably null |
Het |
| Ncdn |
C |
T |
4: 126,645,795 (GRCm39) |
R38H |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,125,706 (GRCm39) |
K219R |
probably benign |
Het |
| Opalin |
A |
T |
19: 41,060,668 (GRCm39) |
S2R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,201 (GRCm39) |
S274T |
probably damaging |
Het |
| Pask |
G |
A |
1: 93,263,390 (GRCm39) |
S122L |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,176 (GRCm39) |
S602P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,816,753 (GRCm39) |
K1271R |
|
Het |
| Piezo1 |
T |
C |
8: 123,224,214 (GRCm39) |
H763R |
|
Het |
| Pigr |
A |
G |
1: 130,777,350 (GRCm39) |
K719E |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,638,790 (GRCm39) |
V245E |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,829,444 (GRCm39) |
M925V |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,543 (GRCm39) |
|
probably null |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,026,052 (GRCm39) |
H359L |
probably damaging |
Het |
| Rfesd |
C |
T |
13: 76,156,299 (GRCm39) |
V36I |
possibly damaging |
Het |
| Rims1 |
G |
A |
1: 22,523,823 (GRCm39) |
T421M |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,615 (GRCm39) |
H150L |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,122 (GRCm39) |
M408K |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,961,021 (GRCm39) |
|
probably null |
Het |
| Tia1 |
T |
C |
6: 86,407,347 (GRCm39) |
*387R |
probably null |
Het |
| Top3a |
A |
C |
11: 60,647,517 (GRCm39) |
V186G |
probably damaging |
Het |
| Upk3b |
T |
A |
5: 136,067,736 (GRCm39) |
S27R |
unknown |
Het |
| Usp18 |
A |
G |
6: 121,239,726 (GRCm39) |
S274G |
probably benign |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,404,347 (GRCm39) |
I34V |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,101 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,655,186 (GRCm39) |
Y560C |
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 |
|
|
R6160:Gm12185
|
UTSW |
11 |
48,799,255 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- TTCCAGTGATGCCTCATTCAG -3'
(R):5'- CGAACAAAGACAGATTCTGATCTAG -3'
Sequencing Primer
(F):5'- TTCAGGCCAAAGGAAGATCTATAGTC -3'
(R):5'- CTAGAGAATGAAAAACTGTGTAACCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation