Incidental Mutation 'R4181:Gm973'
| ID |
319715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm973
|
| Ensembl Gene |
ENSMUSG00000047361 |
| Gene Name |
predicted gene 973 |
| Synonyms |
LOC381260 |
| MMRRC Submission |
041017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59590399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 302
(Y302C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
[ENSMUST00000186434]
|
| AlphaFold |
E9Q295 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114243
AA Change: Y302C
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: Y302C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186310
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186434
AA Change: Y301C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191318
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
92% (48/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
| Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
| Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lpcat3 |
C |
T |
6: 124,680,187 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or7g30 |
C |
T |
9: 19,353,031 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rorc |
G |
A |
3: 94,294,500 (GRCm39) |
C33Y |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,990,778 (GRCm39) |
E470G |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
|
| Other mutations in Gm973 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Gm973
|
APN |
1 |
59,669,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01732:Gm973
|
APN |
1 |
59,669,396 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02124:Gm973
|
APN |
1 |
59,621,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL02251:Gm973
|
APN |
1 |
59,621,582 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02818:Gm973
|
APN |
1 |
59,580,634 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03385:Gm973
|
APN |
1 |
59,621,629 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0105:Gm973
|
UTSW |
1 |
59,621,633 (GRCm39) |
missense |
probably null |
0.60 |
|
R0280:Gm973
|
UTSW |
1 |
59,583,839 (GRCm39) |
frame shift |
probably null |
|
|
R0490:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0491:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Gm973
|
UTSW |
1 |
59,621,649 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Gm973
|
UTSW |
1 |
59,590,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0709:Gm973
|
UTSW |
1 |
59,597,393 (GRCm39) |
splice site |
probably benign |
|
|
R0900:Gm973
|
UTSW |
1 |
59,605,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1758:Gm973
|
UTSW |
1 |
59,673,169 (GRCm39) |
missense |
unknown |
|
|
R1816:Gm973
|
UTSW |
1 |
59,621,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Gm973
|
UTSW |
1 |
59,601,930 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2166:Gm973
|
UTSW |
1 |
59,565,898 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3052:Gm973
|
UTSW |
1 |
59,672,299 (GRCm39) |
splice site |
probably benign |
|
|
R3899:Gm973
|
UTSW |
1 |
59,664,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4302:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4623:Gm973
|
UTSW |
1 |
59,595,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Gm973
|
UTSW |
1 |
59,597,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Gm973
|
UTSW |
1 |
59,591,713 (GRCm39) |
nonsense |
probably null |
|
|
R4920:Gm973
|
UTSW |
1 |
59,666,725 (GRCm39) |
missense |
probably benign |
|
|
R4951:Gm973
|
UTSW |
1 |
59,580,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5214:Gm973
|
UTSW |
1 |
59,565,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Gm973
|
UTSW |
1 |
59,601,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5472:Gm973
|
UTSW |
1 |
59,667,446 (GRCm39) |
splice site |
probably null |
|
|
R5554:Gm973
|
UTSW |
1 |
59,566,131 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5709:Gm973
|
UTSW |
1 |
59,591,714 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5886:Gm973
|
UTSW |
1 |
59,597,409 (GRCm39) |
intron |
probably benign |
|
|
R6044:Gm973
|
UTSW |
1 |
59,667,393 (GRCm39) |
missense |
probably benign |
|
|
R6046:Gm973
|
UTSW |
1 |
59,671,509 (GRCm39) |
missense |
unknown |
|
|
R6818:Gm973
|
UTSW |
1 |
59,669,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6920:Gm973
|
UTSW |
1 |
59,591,620 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6999:Gm973
|
UTSW |
1 |
59,673,251 (GRCm39) |
missense |
unknown |
|
|
R7214:Gm973
|
UTSW |
1 |
59,601,888 (GRCm39) |
nonsense |
probably null |
|
|
R7418:Gm973
|
UTSW |
1 |
59,565,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Gm973
|
UTSW |
1 |
59,597,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8834:Gm973
|
UTSW |
1 |
59,563,820 (GRCm39) |
missense |
|
|
|
R9083:Gm973
|
UTSW |
1 |
59,675,317 (GRCm39) |
missense |
|
|
|
R9206:Gm973
|
UTSW |
1 |
59,591,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9297:Gm973
|
UTSW |
1 |
59,583,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Gm973
|
UTSW |
1 |
59,580,611 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9701:Gm973
|
UTSW |
1 |
59,566,032 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Gm973
|
UTSW |
1 |
59,563,761 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Gm973
|
UTSW |
1 |
59,580,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCACATGGTCTGACTTACAG -3'
(R):5'- GGTGAGCCTGTCAGATTCTC -3'
Sequencing Primer
(F):5'- TGACTTACAGAGAGCTGCTTAATCCC -3'
(R):5'- ACTCTGCTATTCTCAAGGGCGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation