Incidental Mutation 'R6604:4930447A16Rik'
ID |
525559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930447A16Rik
|
Ensembl Gene |
ENSMUSG00000022288 |
Gene Name |
RIKEN cDNA 4930447A16 gene |
Synonyms |
|
MMRRC Submission |
044727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6604 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
37425835-37440897 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 37439823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022897]
[ENSMUST00000090150]
[ENSMUST00000116445]
[ENSMUST00000119730]
[ENSMUST00000120746]
[ENSMUST00000148652]
[ENSMUST00000150453]
[ENSMUST00000153775]
[ENSMUST00000168992]
|
AlphaFold |
Q9D5F6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022897
AA Change: E107G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090150
|
SMART Domains |
Protein: ENSMUSP00000087611 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116445
|
SMART Domains |
Protein: ENSMUSP00000112146 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119730
|
SMART Domains |
Protein: ENSMUSP00000113858 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120746
|
SMART Domains |
Protein: ENSMUSP00000112898 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145909
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148652
|
SMART Domains |
Protein: ENSMUSP00000121460 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
Pfam:EF-hand_5
|
149 |
163 |
1.2e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150453
|
SMART Domains |
Protein: ENSMUSP00000119726 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
3 |
88 |
3.9e-8 |
PFAM |
Pfam:EF-hand_8
|
39 |
88 |
8.2e-8 |
PFAM |
Pfam:EF-hand_1
|
64 |
88 |
5e-8 |
PFAM |
Pfam:EF-hand_6
|
64 |
88 |
1.6e-6 |
PFAM |
Pfam:EF-hand_5
|
65 |
86 |
2.5e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153775
|
SMART Domains |
Protein: ENSMUSP00000114576 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
174 |
1.4e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168992
|
SMART Domains |
Protein: ENSMUSP00000130126 Gene: ENSMUSG00000051359
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably damaging |
Het |
|
Other mutations in 4930447A16Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02163:4930447A16Rik
|
APN |
15 |
37,439,852 (GRCm39) |
intron |
probably benign |
|
IGL02639:4930447A16Rik
|
APN |
15 |
37,430,048 (GRCm39) |
nonsense |
probably null |
|
R0569:4930447A16Rik
|
UTSW |
15 |
37,425,863 (GRCm39) |
start codon destroyed |
probably null |
|
R1596:4930447A16Rik
|
UTSW |
15 |
37,426,018 (GRCm39) |
intron |
probably benign |
|
R1728:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
R1729:4930447A16Rik
|
UTSW |
15 |
37,439,844 (GRCm39) |
intron |
probably benign |
|
R1967:4930447A16Rik
|
UTSW |
15 |
37,439,842 (GRCm39) |
intron |
probably benign |
|
R2018:4930447A16Rik
|
UTSW |
15 |
37,440,742 (GRCm39) |
intron |
probably benign |
|
R4811:4930447A16Rik
|
UTSW |
15 |
37,425,952 (GRCm39) |
intron |
probably benign |
|
R5760:4930447A16Rik
|
UTSW |
15 |
37,439,835 (GRCm39) |
intron |
probably benign |
|
R6572:4930447A16Rik
|
UTSW |
15 |
37,425,961 (GRCm39) |
nonsense |
probably null |
|
R8544:4930447A16Rik
|
UTSW |
15 |
37,425,979 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCACTGTGCCTCAAGTTAAG -3'
(R):5'- AAGCTCGGATCATTGCTTCTGC -3'
Sequencing Primer
(F):5'- ACTGTGCCTCAAGTTAAGATAATATG -3'
(R):5'- GATCTCTGTGAGTTCAAGACCAGTC -3'
|
Posted On |
2018-06-22 |