Incidental Mutation 'R2378:R3hcc1l'
ID |
248364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hcc1l
|
Ensembl Gene |
ENSMUSG00000025184 |
Gene Name |
R3H domain and coiled-coil containing 1 like |
Synonyms |
1700036B12Rik, D19Ertd386e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2378 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
42507198-42580782 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42551912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 303
(I303N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000160107]
[ENSMUST00000160893]
|
AlphaFold |
Q8BJM3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026188
AA Change: I303N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026188 Gene: ENSMUSG00000025184 AA Change: I303N
Domain | Start | End | E-Value | Type |
low complexity region
|
163 |
178 |
N/A |
INTRINSIC |
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
coiled coil region
|
734 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160107
|
SMART Domains |
Protein: ENSMUSP00000124036 Gene: ENSMUSG00000025184
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
coiled coil region
|
154 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162829
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
Eif3c |
C |
T |
7: 126,151,497 (GRCm39) |
R609H |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
Mtss2 |
T |
C |
8: 111,464,981 (GRCm39) |
F474L |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Spsb3 |
A |
G |
17: 25,105,924 (GRCm39) |
|
probably benign |
Het |
Tgfbr2 |
G |
A |
9: 115,959,018 (GRCm39) |
T132I |
probably benign |
Het |
Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
probably damaging |
Het |
|
Other mutations in R3hcc1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:R3hcc1l
|
APN |
19 |
42,552,391 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01731:R3hcc1l
|
APN |
19 |
42,551,240 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01921:R3hcc1l
|
APN |
19 |
42,552,220 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01933:R3hcc1l
|
APN |
19 |
42,551,389 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02047:R3hcc1l
|
APN |
19 |
42,552,258 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02658:R3hcc1l
|
APN |
19 |
42,551,141 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02952:R3hcc1l
|
APN |
19 |
42,552,433 (GRCm39) |
missense |
probably damaging |
0.97 |
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
R0233:R3hcc1l
|
UTSW |
19 |
42,571,360 (GRCm39) |
critical splice donor site |
probably null |
|
R0254:R3hcc1l
|
UTSW |
19 |
42,551,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R0285:R3hcc1l
|
UTSW |
19 |
42,564,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:R3hcc1l
|
UTSW |
19 |
42,550,995 (GRCm39) |
utr 5 prime |
probably benign |
|
R0727:R3hcc1l
|
UTSW |
19 |
42,564,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:R3hcc1l
|
UTSW |
19 |
42,552,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R1061:R3hcc1l
|
UTSW |
19 |
42,571,865 (GRCm39) |
nonsense |
probably null |
|
R1570:R3hcc1l
|
UTSW |
19 |
42,570,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R1641:R3hcc1l
|
UTSW |
19 |
42,552,046 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2696:R3hcc1l
|
UTSW |
19 |
42,552,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3051:R3hcc1l
|
UTSW |
19 |
42,551,064 (GRCm39) |
nonsense |
probably null |
|
R3053:R3hcc1l
|
UTSW |
19 |
42,551,064 (GRCm39) |
nonsense |
probably null |
|
R4471:R3hcc1l
|
UTSW |
19 |
42,571,259 (GRCm39) |
splice site |
probably benign |
|
R4643:R3hcc1l
|
UTSW |
19 |
42,551,239 (GRCm39) |
missense |
probably benign |
0.09 |
R4772:R3hcc1l
|
UTSW |
19 |
42,571,996 (GRCm39) |
splice site |
probably benign |
|
R5524:R3hcc1l
|
UTSW |
19 |
42,552,307 (GRCm39) |
nonsense |
probably null |
|
R5976:R3hcc1l
|
UTSW |
19 |
42,551,789 (GRCm39) |
missense |
probably benign |
0.06 |
R6965:R3hcc1l
|
UTSW |
19 |
42,551,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7086:R3hcc1l
|
UTSW |
19 |
42,570,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R7158:R3hcc1l
|
UTSW |
19 |
42,571,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:R3hcc1l
|
UTSW |
19 |
42,571,979 (GRCm39) |
nonsense |
probably null |
|
R7447:R3hcc1l
|
UTSW |
19 |
42,551,101 (GRCm39) |
missense |
probably benign |
0.02 |
R7792:R3hcc1l
|
UTSW |
19 |
42,552,403 (GRCm39) |
missense |
probably damaging |
0.96 |
R8222:R3hcc1l
|
UTSW |
19 |
42,564,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R8756:R3hcc1l
|
UTSW |
19 |
42,552,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R9204:R3hcc1l
|
UTSW |
19 |
42,552,301 (GRCm39) |
missense |
probably benign |
0.02 |
R9514:R3hcc1l
|
UTSW |
19 |
42,507,203 (GRCm39) |
unclassified |
probably benign |
|
R9664:R3hcc1l
|
UTSW |
19 |
42,552,671 (GRCm39) |
missense |
probably benign |
0.03 |
X0064:R3hcc1l
|
UTSW |
19 |
42,571,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAACTGCACCATCCAGTCTG -3'
(R):5'- AAGCCTTGCTGGTACTGTCAC -3'
Sequencing Primer
(F):5'- TGGAAACACCAGATGGGATGTC -3'
(R):5'- CATCTGTGTCTATTTCATGCACGAGG -3'
|
Posted On |
2014-11-11 |