Incidental Mutation 'R9546:Gm12258'
| ID |
720130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12258
|
| Ensembl Gene |
ENSMUSG00000072915 |
| Gene Name |
predicted gene 12258 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58737984-58752782 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58749922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 366
(K366E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093768]
[ENSMUST00000139337]
|
| AlphaFold |
Q5NC63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093768
|
| SMART Domains |
Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
8 |
30 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
36 |
58 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
64 |
86 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
92 |
114 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
120 |
142 |
8.34e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139337
AA Change: K366E
|
| SMART Domains |
Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: K366E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
56 |
116 |
1.8e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
A |
11: 110,135,042 (GRCm39) |
Q248* |
probably null |
Het |
| Adgrf4 |
A |
T |
17: 42,978,283 (GRCm39) |
C353* |
probably null |
Het |
| Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
| Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
| Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
| Ccdc122 |
T |
A |
14: 77,306,313 (GRCm39) |
V28E |
probably damaging |
Het |
| Cd5l |
T |
C |
3: 87,268,201 (GRCm39) |
V16A |
probably benign |
Het |
| Cdk11b |
T |
C |
4: 155,733,589 (GRCm39) |
S682P |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,453,408 (GRCm39) |
I1218V |
probably damaging |
Het |
| Clec1b |
A |
C |
6: 129,382,167 (GRCm39) |
I215L |
probably benign |
Het |
| Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
| Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Epn2 |
T |
C |
11: 61,437,407 (GRCm39) |
E55G |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,300,853 (GRCm39) |
S514P |
probably benign |
Het |
| Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,788,443 (GRCm39) |
D149E |
probably benign |
Het |
| Gm9195 |
G |
T |
14: 72,718,347 (GRCm39) |
H110N |
possibly damaging |
Het |
| Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hexb |
T |
C |
13: 97,322,176 (GRCm39) |
D203G |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
| Iglon5 |
A |
T |
7: 43,123,891 (GRCm39) |
M336K |
probably benign |
Het |
| Iyd |
A |
T |
10: 3,501,884 (GRCm39) |
I177F |
possibly damaging |
Het |
| Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
| Klhl12 |
T |
A |
1: 134,413,562 (GRCm39) |
L349Q |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,287,165 (GRCm39) |
|
probably null |
Het |
| Mrm2 |
T |
A |
5: 140,314,334 (GRCm39) |
H167L |
probably damaging |
Het |
| Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,022,805 (GRCm39) |
R51S |
probably damaging |
Het |
| Nags |
A |
T |
11: 102,039,081 (GRCm39) |
T471S |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,379,621 (GRCm39) |
R41W |
probably benign |
Het |
| Notch1 |
T |
A |
2: 26,371,127 (GRCm39) |
N320Y |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,026,528 (GRCm39) |
K468E |
possibly damaging |
Het |
| Nsf |
G |
A |
11: 103,801,275 (GRCm39) |
Q247* |
probably null |
Het |
| Obsl1 |
T |
C |
1: 75,482,030 (GRCm39) |
H280R |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,254,049 (GRCm39) |
M107V |
probably benign |
Het |
| Pcdha3 |
C |
T |
18: 37,079,389 (GRCm39) |
R44C |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,157,741 (GRCm39) |
S623P |
possibly damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
| Plk2 |
T |
A |
13: 110,535,301 (GRCm39) |
I445K |
possibly damaging |
Het |
| Pramel51 |
C |
A |
12: 88,148,651 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
| Prl3d1 |
A |
T |
13: 27,278,982 (GRCm39) |
Y59F |
probably benign |
Het |
| Ptprj |
C |
T |
2: 90,274,805 (GRCm39) |
V1186I |
probably benign |
Het |
| Raly |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG |
AGCAGCAGTGGTGGAGG |
2: 154,705,754 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,994,215 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,602,101 (GRCm39) |
|
probably null |
Het |
| Scn7a |
A |
T |
2: 66,582,603 (GRCm39) |
I98N |
possibly damaging |
Het |
| Spi1 |
T |
A |
2: 90,943,617 (GRCm39) |
S54T |
probably benign |
Het |
| Ssna1 |
C |
T |
2: 25,162,316 (GRCm39) |
V16I |
probably benign |
Het |
| Sult3a2 |
G |
A |
10: 33,655,670 (GRCm39) |
P103L |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,193,123 (GRCm39) |
G3975D |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
| Vmn2r24 |
A |
C |
6: 123,764,266 (GRCm39) |
E381A |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,661,721 (GRCm39) |
G489D |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,959 (GRCm39) |
L422Q |
probably damaging |
Het |
| Zfand3 |
T |
A |
17: 30,372,302 (GRCm39) |
H107Q |
probably benign |
Het |
|
| Other mutations in Gm12258 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Gm12258
|
APN |
11 |
58,746,896 (GRCm39) |
missense |
probably benign |
|
|
IGL01391:Gm12258
|
APN |
11 |
58,739,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03081:Gm12258
|
APN |
11 |
58,749,085 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1521:Gm12258
|
UTSW |
11 |
58,750,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Gm12258
|
UTSW |
11 |
58,749,113 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3895:Gm12258
|
UTSW |
11 |
58,749,375 (GRCm39) |
nonsense |
probably null |
|
|
R4065:Gm12258
|
UTSW |
11 |
58,749,352 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4066:Gm12258
|
UTSW |
11 |
58,749,352 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4747:Gm12258
|
UTSW |
11 |
58,750,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Gm12258
|
UTSW |
11 |
58,749,856 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5554:Gm12258
|
UTSW |
11 |
58,749,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5896:Gm12258
|
UTSW |
11 |
58,750,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Gm12258
|
UTSW |
11 |
58,750,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6277:Gm12258
|
UTSW |
11 |
58,745,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7166:Gm12258
|
UTSW |
11 |
58,749,299 (GRCm39) |
missense |
|
|
|
R7728:Gm12258
|
UTSW |
11 |
58,750,518 (GRCm39) |
missense |
unknown |
|
|
R8161:Gm12258
|
UTSW |
11 |
58,750,138 (GRCm39) |
missense |
unknown |
|
|
R8268:Gm12258
|
UTSW |
11 |
58,745,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8491:Gm12258
|
UTSW |
11 |
58,745,122 (GRCm39) |
missense |
|
|
|
R8878:Gm12258
|
UTSW |
11 |
58,750,112 (GRCm39) |
missense |
unknown |
|
|
R9381:Gm12258
|
UTSW |
11 |
58,750,007 (GRCm39) |
missense |
unknown |
|
|
R9409:Gm12258
|
UTSW |
11 |
58,745,119 (GRCm39) |
missense |
|
|
|
R9723:Gm12258
|
UTSW |
11 |
58,750,448 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1186:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1187:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1188:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1189:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1190:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1191:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,690 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,014 (GRCm39) |
unclassified |
probably benign |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,750,013 (GRCm39) |
unclassified |
probably benign |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,833 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,776 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,764 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,262 (GRCm39) |
missense |
|
|
|
Z1192:Gm12258
|
UTSW |
11 |
58,749,126 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCGGGAGAAGAACTTTATAC -3'
(R):5'- ATAGCGTTTCTCCTGCGTG -3'
Sequencing Primer
(F):5'- TGTAATGGTGATGAGAAATACATTCG -3'
(R):5'- CTCCTGCGTGGGAGCTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation