Incidental Mutation 'R5971:5031439G07Rik'
ID |
501981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5031439G07Rik
|
Ensembl Gene |
ENSMUSG00000036046 |
Gene Name |
RIKEN cDNA 5031439G07 gene |
Synonyms |
|
MMRRC Submission |
044154-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5971 (G1)
|
Quality Score |
23 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84828137-84872503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 84871863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 4
(A4D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047144]
[ENSMUST00000165743]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047144
AA Change: A4D
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037011 Gene: ENSMUSG00000036046 AA Change: A4D
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
25 |
264 |
7.4e-123 |
PFAM |
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165743
AA Change: A47D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000128699 Gene: ENSMUSG00000036046 AA Change: A47D
Domain | Start | End | E-Value | Type |
Pfam:DUF2045
|
71 |
305 |
7.3e-103 |
PFAM |
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170863
|
Meta Mutation Damage Score |
0.0886 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
87% (27/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
Ctnna1 |
T |
C |
18: 35,287,567 (GRCm39) |
V92A |
probably benign |
Het |
Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
probably damaging |
Het |
|
Other mutations in 5031439G07Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:5031439G07Rik
|
APN |
15 |
84,840,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02752:5031439G07Rik
|
APN |
15 |
84,840,042 (GRCm39) |
nonsense |
probably null |
|
R0269:5031439G07Rik
|
UTSW |
15 |
84,838,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0899:5031439G07Rik
|
UTSW |
15 |
84,833,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:5031439G07Rik
|
UTSW |
15 |
84,837,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:5031439G07Rik
|
UTSW |
15 |
84,839,833 (GRCm39) |
splice site |
probably benign |
|
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R2299:5031439G07Rik
|
UTSW |
15 |
84,837,486 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5721:5031439G07Rik
|
UTSW |
15 |
84,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R5912:5031439G07Rik
|
UTSW |
15 |
84,839,897 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6131:5031439G07Rik
|
UTSW |
15 |
84,844,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:5031439G07Rik
|
UTSW |
15 |
84,833,798 (GRCm39) |
nonsense |
probably null |
|
R7173:5031439G07Rik
|
UTSW |
15 |
84,833,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7220:5031439G07Rik
|
UTSW |
15 |
84,837,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7554:5031439G07Rik
|
UTSW |
15 |
84,839,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:5031439G07Rik
|
UTSW |
15 |
84,834,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8218:5031439G07Rik
|
UTSW |
15 |
84,839,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:5031439G07Rik
|
UTSW |
15 |
84,871,836 (GRCm39) |
missense |
probably benign |
|
R8501:5031439G07Rik
|
UTSW |
15 |
84,844,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:5031439G07Rik
|
UTSW |
15 |
84,839,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9032:5031439G07Rik
|
UTSW |
15 |
84,844,782 (GRCm39) |
missense |
probably benign |
0.34 |
Z1177:5031439G07Rik
|
UTSW |
15 |
84,834,843 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGACACTGAGACTTGGGGTCC -3'
(R):5'- AGCGGATTGTGGCTTCACTG -3'
Sequencing Primer
(F):5'- ACTTGGGGTCCCGAAAGAC -3'
(R):5'- TTCACTGGTGCTCGCGG -3'
|
Posted On |
2018-02-08 |