Incidental Mutation 'R9403:Gm5591'
| ID |
711343 |
| 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: 0.215)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
38217563-38227617 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38219572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 434
(M434L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079759]
|
| AlphaFold |
Q8CDK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079759
AA Change: M434L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: M434L
| 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 |
|
| 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 |
|---|
| Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,639,008 (GRCm39) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,691,467 (GRCm39) |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,676,515 (GRCm39) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,199,179 (GRCm39) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,593,145 (GRCm39) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,409,905 (GRCm39) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,696,012 (GRCm39) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,748,817 (GRCm39) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,176,909 (GRCm39) |
R635H |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,142,280 (GRCm39) |
T255P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,537,843 (GRCm39) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 36,882,215 (GRCm39) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,471,852 (GRCm39) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,302,349 (GRCm39) |
H22N |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,840 (GRCm39) |
D47N |
possibly damaging |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,066,747 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,066,745 (GRCm39) |
|
probably null |
Het |
| Slc2a3 |
A |
C |
6: 122,713,569 (GRCm39) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,810,016 (GRCm39) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,684 (GRCm39) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Gm5591 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Gm5591
|
APN |
7 |
38,219,838 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02277:Gm5591
|
APN |
7 |
38,218,462 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02277:Gm5591
|
APN |
7 |
38,219,856 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02503:Gm5591
|
APN |
7 |
38,219,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Gm5591
|
APN |
7 |
38,219,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Gm5591
|
APN |
7 |
38,218,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Gm5591
|
UTSW |
7 |
38,219,794 (GRCm39) |
missense |
probably benign |
|
|
R2365:Gm5591
|
UTSW |
7 |
38,218,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Gm5591
|
UTSW |
7 |
38,220,058 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4619:Gm5591
|
UTSW |
7 |
38,220,072 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4722:Gm5591
|
UTSW |
7 |
38,218,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5079:Gm5591
|
UTSW |
7 |
38,221,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5237:Gm5591
|
UTSW |
7 |
38,221,631 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5267:Gm5591
|
UTSW |
7 |
38,218,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6337:Gm5591
|
UTSW |
7 |
38,221,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6458:Gm5591
|
UTSW |
7 |
38,218,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Gm5591
|
UTSW |
7 |
38,219,523 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6709:Gm5591
|
UTSW |
7 |
38,221,499 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6874:Gm5591
|
UTSW |
7 |
38,219,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6917:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Gm5591
|
UTSW |
7 |
38,218,647 (GRCm39) |
missense |
probably benign |
|
|
R7446:Gm5591
|
UTSW |
7 |
38,218,933 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7519:Gm5591
|
UTSW |
7 |
38,220,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7596:Gm5591
|
UTSW |
7 |
38,219,608 (GRCm39) |
missense |
probably benign |
|
|
R7923:Gm5591
|
UTSW |
7 |
38,221,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8003:Gm5591
|
UTSW |
7 |
38,219,183 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8027:Gm5591
|
UTSW |
7 |
38,221,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Gm5591
|
UTSW |
7 |
38,218,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Gm5591
|
UTSW |
7 |
38,219,746 (GRCm39) |
missense |
probably benign |
|
|
R8719:Gm5591
|
UTSW |
7 |
38,221,614 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8943:Gm5591
|
UTSW |
7 |
38,219,727 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9314:Gm5591
|
UTSW |
7 |
38,221,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9403:Gm5591
|
UTSW |
7 |
38,221,680 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9424:Gm5591
|
UTSW |
7 |
38,219,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF052:Gm5591
|
UTSW |
7 |
38,221,999 (GRCm39) |
frame shift |
probably null |
|
|
RF062:Gm5591
|
UTSW |
7 |
38,221,759 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCCTCCAGATGCTTTGAG -3'
(R):5'- ACCCTGACTGCACTGATACAAG -3'
Sequencing Primer
(F):5'- CCCTCCAGATGCTTTGAGATGTTG -3'
(R):5'- GTCTAAGACCGAAATCTGCTTCTGAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation