Incidental Mutation 'R9519:Gm973'
| ID |
718739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm973
|
| Ensembl Gene |
ENSMUSG00000047361 |
| Gene Name |
predicted gene 973 |
| Synonyms |
LOC381260 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R9519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59555423-59675576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59580611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 165
(M165V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114243]
[ENSMUST00000186434]
|
| AlphaFold |
E9Q295 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114243
AA Change: M165V
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361
AA Change: M165V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
Pfam:DUF4670
|
583 |
1045 |
7.3e-160 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186434
AA Change: M164V
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,030,572 (GRCm39) |
E676G |
probably benign |
Het |
| Aatk |
G |
A |
11: 119,912,309 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,207,681 (GRCm39) |
V20A |
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,264,805 (GRCm39) |
V181A |
possibly damaging |
Het |
| Alkbh2 |
T |
C |
5: 114,265,794 (GRCm39) |
K3E |
probably benign |
Het |
| Aox1 |
A |
C |
1: 58,373,926 (GRCm39) |
K862N |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,043,946 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,186,948 (GRCm39) |
N67D |
possibly damaging |
Het |
| Atxn1l |
C |
T |
8: 110,458,688 (GRCm39) |
V525M |
probably damaging |
Het |
| Bcan |
C |
G |
3: 87,902,964 (GRCm39) |
E271D |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,902,968 (GRCm39) |
E270G |
probably benign |
Het |
| Bcan |
C |
A |
3: 87,902,967 (GRCm39) |
E270D |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,546,290 (GRCm38) |
H522R |
possibly damaging |
Het |
| Dll3 |
A |
G |
7: 27,995,764 (GRCm39) |
S346P |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,472,668 (GRCm39) |
T406S |
possibly damaging |
Het |
| Far1 |
A |
G |
7: 113,150,559 (GRCm39) |
R296G |
probably benign |
Het |
| Flot1 |
T |
G |
17: 36,136,363 (GRCm39) |
V172G |
possibly damaging |
Het |
| Golm1 |
T |
C |
13: 59,792,914 (GRCm39) |
H197R |
probably benign |
Het |
| Gpr85 |
T |
C |
6: 13,836,998 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,307,356 (GRCm39) |
K1017E |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 66,993,798 (GRCm39) |
D93G |
possibly damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,081,941 (GRCm39) |
V363E |
probably damaging |
Het |
| Kif9 |
A |
G |
9: 110,350,344 (GRCm39) |
D745G |
probably damaging |
Het |
| Lipm |
T |
C |
19: 34,090,392 (GRCm39) |
M191T |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,692,190 (GRCm39) |
R1603C |
probably damaging |
Het |
| Ms4a13 |
C |
G |
19: 11,147,332 (GRCm39) |
S194T |
unknown |
Het |
| Muc16 |
A |
T |
9: 18,498,216 (GRCm39) |
I6577N |
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,412,678 (GRCm39) |
T336A |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,085,302 (GRCm39) |
K92N |
possibly damaging |
Het |
| Or1p1b |
A |
T |
11: 74,130,827 (GRCm39) |
T146S |
probably benign |
Het |
| Or51a10 |
C |
A |
7: 103,698,636 (GRCm39) |
M308I |
probably benign |
Het |
| Parp16 |
T |
A |
9: 65,137,222 (GRCm39) |
Y149* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,337,350 (GRCm39) |
T463S |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,714,394 (GRCm39) |
E276G |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,213,403 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,520,961 (GRCm39) |
Y737C |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sds |
T |
A |
5: 120,619,610 (GRCm39) |
L173Q |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc8a3 |
A |
T |
12: 81,362,326 (GRCm39) |
D164E |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,395,770 (GRCm39) |
N607I |
probably damaging |
Het |
| Smarce1 |
A |
T |
11: 99,104,933 (GRCm39) |
I248K |
probably benign |
Het |
| Smg7 |
G |
T |
1: 152,735,196 (GRCm39) |
T213K |
probably damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,036,875 (GRCm39) |
D90N |
probably benign |
Het |
| Snx20 |
A |
G |
8: 89,354,400 (GRCm39) |
V110A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,486,783 (GRCm39) |
V986A |
probably damaging |
Het |
| Soat1 |
T |
C |
1: 156,259,779 (GRCm39) |
K521E |
probably benign |
Het |
| Speg |
C |
T |
1: 75,392,380 (GRCm39) |
T1679M |
probably damaging |
Het |
| Stoml3 |
T |
A |
3: 53,405,402 (GRCm39) |
F28I |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,704,721 (GRCm39) |
M256K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,608,822 (GRCm39) |
E1064G |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp790 |
C |
A |
7: 29,522,567 (GRCm39) |
H3N |
unknown |
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 |
|
R4181:Gm973
|
UTSW |
1 |
59,590,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- GGCTCAGCTGCTGTACTGTTTC -3'
(R):5'- AGGTAAAAGGCACCCGTTGG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGATGGAGGCTTGTGGAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation