Incidental Mutation 'R9403:Gm5591'
| ID |
711344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5591
|
| Ensembl Gene |
ENSMUSG00000060565 |
| Gene Name |
predicted gene 5591 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
38518139-38528193 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38522256 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 130
(T130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
| AlphaFold |
Q8CDK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079759
AA Change: T130A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: T130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
Pfam:DUF4629
|
437 |
582 |
1.2e-59 |
PFAM |
|
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186462
|
| Meta Mutation Damage Score |
0.0686 |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
G |
6: 96,165,299 (GRCm38) |
T255P |
probably benign |
Het |
| 4930444G20Rik |
C |
T |
10: 22,067,941 (GRCm38) |
D47N |
possibly damaging |
Het |
| Angpt4 |
C |
T |
2: 151,938,972 (GRCm38) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 (GRCm38) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,927 (GRCm38) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 (GRCm38) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,828,071 (GRCm38) |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,090 (GRCm38) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 (GRCm38) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 (GRCm38) |
R453Q |
probably benign |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 (GRCm38) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 (GRCm38) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,325,660 (GRCm38) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 (GRCm38) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 (GRCm38) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,621,673 (GRCm38) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,432,970 (GRCm38) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm38) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 (GRCm38) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 (GRCm38) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 (GRCm38) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 (GRCm38) |
R635H |
probably benign |
Het |
| Olfr263 |
T |
C |
13: 21,133,695 (GRCm38) |
F307L |
probably benign |
Het |
| Olfr723 |
T |
C |
14: 49,929,449 (GRCm38) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 (GRCm38) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 (GRCm38) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 (GRCm38) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 (GRCm38) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 (GRCm38) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 (GRCm38) |
H22N |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 (GRCm38) |
|
probably benign |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 (GRCm38) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 (GRCm38) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,062,523 (GRCm38) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 (GRCm38) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 (GRCm38) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 (GRCm38) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 (GRCm38) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 (GRCm38) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 (GRCm38) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 (GRCm38) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Gm5591 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm5591
|
APN |
7 |
38,520,414 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02277:Gm5591
|
APN |
7 |
38,519,038 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02277:Gm5591
|
APN |
7 |
38,520,432 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02503:Gm5591
|
APN |
7 |
38,520,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02897:Gm5591
|
APN |
7 |
38,520,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02899:Gm5591
|
APN |
7 |
38,519,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1599:Gm5591
|
UTSW |
7 |
38,520,370 (GRCm38) |
missense |
probably benign |
|
|
R2365:Gm5591
|
UTSW |
7 |
38,519,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3054:Gm5591
|
UTSW |
7 |
38,520,634 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4619:Gm5591
|
UTSW |
7 |
38,520,648 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4722:Gm5591
|
UTSW |
7 |
38,519,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4779:Gm5591
|
UTSW |
7 |
38,522,256 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5079:Gm5591
|
UTSW |
7 |
38,522,136 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5237:Gm5591
|
UTSW |
7 |
38,522,207 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5267:Gm5591
|
UTSW |
7 |
38,518,914 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6337:Gm5591
|
UTSW |
7 |
38,521,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6458:Gm5591
|
UTSW |
7 |
38,519,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6671:Gm5591
|
UTSW |
7 |
38,520,099 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6709:Gm5591
|
UTSW |
7 |
38,522,075 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6874:Gm5591
|
UTSW |
7 |
38,520,291 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6917:Gm5591
|
UTSW |
7 |
38,522,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6993:Gm5591
|
UTSW |
7 |
38,519,223 (GRCm38) |
missense |
probably benign |
|
|
R7446:Gm5591
|
UTSW |
7 |
38,519,509 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7519:Gm5591
|
UTSW |
7 |
38,520,670 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7596:Gm5591
|
UTSW |
7 |
38,520,184 (GRCm38) |
missense |
probably benign |
|
|
R7923:Gm5591
|
UTSW |
7 |
38,521,914 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8003:Gm5591
|
UTSW |
7 |
38,519,759 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8027:Gm5591
|
UTSW |
7 |
38,522,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8058:Gm5591
|
UTSW |
7 |
38,518,939 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8242:Gm5591
|
UTSW |
7 |
38,520,322 (GRCm38) |
missense |
probably benign |
|
|
R8719:Gm5591
|
UTSW |
7 |
38,522,190 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8943:Gm5591
|
UTSW |
7 |
38,520,303 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9314:Gm5591
|
UTSW |
7 |
38,522,460 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9403:Gm5591
|
UTSW |
7 |
38,520,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9424:Gm5591
|
UTSW |
7 |
38,520,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF052:Gm5591
|
UTSW |
7 |
38,522,575 (GRCm38) |
frame shift |
probably null |
|
|
RF062:Gm5591
|
UTSW |
7 |
38,522,335 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGCAAACACTGTCCTAGTTC -3'
(R):5'- TTAACCCACATGCTGGCAAG -3'
Sequencing Primer
(F):5'- TATCAGACGGTCCAGGCAATTGTG -3'
(R):5'- TGGCAAGACCATGCTGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation