Incidental Mutation 'R8391:R3hdm1'
| ID |
647354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
067756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128121215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 176
(F176L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187900]
[ENSMUST00000190056]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036288
AA Change: F583L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: F583L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
8.8e-15 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187900
|
| SMART Domains |
Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
2.7e-14 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190056
AA Change: F240L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: F240L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
299 |
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,368,968 (GRCm39) |
S155P |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,375,794 (GRCm39) |
N154I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,602 (GRCm39) |
W616R |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,888 (GRCm39) |
I641F |
possibly damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,645,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,596,212 (GRCm39) |
A493V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,596,204 (GRCm39) |
A1939V |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,325,706 (GRCm39) |
I1027V |
probably benign |
Het |
| Cbln3 |
G |
A |
14: 56,120,523 (GRCm39) |
R170C |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,604,517 (GRCm39) |
S842G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,718,491 (GRCm39) |
Q284L |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,595,788 (GRCm39) |
N366D |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,127 (GRCm39) |
Y124N |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,309,894 (GRCm39) |
F228S |
probably damaging |
Het |
| Gm5565 |
C |
A |
5: 146,096,962 (GRCm39) |
R59L |
probably benign |
Het |
| Gm8947 |
A |
T |
1: 151,068,737 (GRCm39) |
D190V |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,365,951 (GRCm39) |
M543T |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,213 (GRCm39) |
L957P |
probably damaging |
Het |
| Hint1 |
T |
C |
11: 54,757,368 (GRCm39) |
I18T |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,374 (GRCm39) |
S323G |
probably benign |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnj1 |
A |
T |
9: 32,308,028 (GRCm39) |
T151S |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,281,154 (GRCm39) |
T685K |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,488,965 (GRCm39) |
H206L |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,185 (GRCm39) |
Y1081H |
probably damaging |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,691 (GRCm39) |
T605I |
possibly damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,277 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or1j21 |
C |
T |
2: 36,684,096 (GRCm39) |
P283S |
probably damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,954,013 (GRCm39) |
R307C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,060 (GRCm39) |
I136V |
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,500,431 (GRCm39) |
Y150D |
probably damaging |
Het |
| Qrich2 |
C |
G |
11: 116,356,403 (GRCm39) |
V149L |
probably benign |
Het |
| Ric8a |
T |
A |
7: 140,437,916 (GRCm39) |
S52T |
probably benign |
Het |
| Romo1 |
G |
T |
2: 155,986,340 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
G |
A |
4: 133,591,346 (GRCm39) |
H318Y |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,151 (GRCm39) |
N41S |
probably benign |
Het |
| Srrm4 |
T |
G |
5: 116,582,755 (GRCm39) |
T567P |
unknown |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| St6galnac4 |
G |
T |
2: 32,484,086 (GRCm39) |
D95Y |
probably damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,956,516 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 5,991,796 (GRCm39) |
E24G |
probably damaging |
Het |
| Try10 |
T |
G |
6: 41,334,306 (GRCm39) |
L166R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,562,544 (GRCm39) |
V28767A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,604,822 (GRCm39) |
I18371F |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,625 (GRCm39) |
L1306Q |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,726,179 (GRCm39) |
T674S |
probably benign |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,346,801 (GRCm39) |
Y279C |
probably benign |
Het |
|
| Other mutations in R3hdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:R3hdm1
|
APN |
1 |
128,164,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00799:R3hdm1
|
APN |
1 |
128,102,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:R3hdm1
|
APN |
1 |
128,163,369 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:R3hdm1
|
APN |
1 |
128,164,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00990:R3hdm1
|
APN |
1 |
128,089,933 (GRCm39) |
intron |
probably benign |
|
|
IGL01137:R3hdm1
|
APN |
1 |
128,109,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01323:R3hdm1
|
APN |
1 |
128,144,280 (GRCm39) |
missense |
probably benign |
|
|
IGL01461:R3hdm1
|
APN |
1 |
128,106,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:R3hdm1
|
APN |
1 |
128,114,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:R3hdm1
|
APN |
1 |
128,102,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01837:R3hdm1
|
APN |
1 |
128,114,497 (GRCm39) |
nonsense |
probably null |
|
|
IGL01934:R3hdm1
|
APN |
1 |
128,164,272 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02074:R3hdm1
|
APN |
1 |
128,096,775 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02532:R3hdm1
|
APN |
1 |
128,124,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02606:R3hdm1
|
APN |
1 |
128,118,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02851:R3hdm1
|
APN |
1 |
128,102,677 (GRCm39) |
splice site |
probably benign |
|
|
driven
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:R3hdm1
|
UTSW |
1 |
128,138,929 (GRCm39) |
splice site |
probably benign |
|
|
R0280:R3hdm1
|
UTSW |
1 |
128,090,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0482:R3hdm1
|
UTSW |
1 |
128,112,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0521:R3hdm1
|
UTSW |
1 |
128,121,440 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0578:R3hdm1
|
UTSW |
1 |
128,159,174 (GRCm39) |
nonsense |
probably null |
|
|
R0698:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:R3hdm1
|
UTSW |
1 |
128,121,333 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1026:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1319:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1320:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1511:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:R3hdm1
|
UTSW |
1 |
128,162,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:R3hdm1
|
UTSW |
1 |
128,096,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2140:R3hdm1
|
UTSW |
1 |
128,118,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:R3hdm1
|
UTSW |
1 |
128,114,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2447:R3hdm1
|
UTSW |
1 |
128,114,666 (GRCm39) |
intron |
probably benign |
|
|
R4564:R3hdm1
|
UTSW |
1 |
128,149,396 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4640:R3hdm1
|
UTSW |
1 |
128,102,975 (GRCm39) |
splice site |
probably benign |
|
|
R4649:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:R3hdm1
|
UTSW |
1 |
128,164,503 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5393:R3hdm1
|
UTSW |
1 |
128,159,084 (GRCm39) |
missense |
probably benign |
|
|
R5554:R3hdm1
|
UTSW |
1 |
128,164,409 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5979:R3hdm1
|
UTSW |
1 |
128,138,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6123:R3hdm1
|
UTSW |
1 |
128,096,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6185:R3hdm1
|
UTSW |
1 |
128,079,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6618:R3hdm1
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6636:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6639:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6756:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R7168:R3hdm1
|
UTSW |
1 |
128,144,232 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7210:R3hdm1
|
UTSW |
1 |
128,138,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7367:R3hdm1
|
UTSW |
1 |
128,081,129 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7536:R3hdm1
|
UTSW |
1 |
128,109,948 (GRCm39) |
splice site |
probably null |
|
|
R7896:R3hdm1
|
UTSW |
1 |
128,096,703 (GRCm39) |
splice site |
probably null |
|
|
R8486:R3hdm1
|
UTSW |
1 |
128,106,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8490:R3hdm1
|
UTSW |
1 |
128,162,864 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8947:R3hdm1
|
UTSW |
1 |
128,102,694 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8990:R3hdm1
|
UTSW |
1 |
128,106,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:R3hdm1
|
UTSW |
1 |
128,089,975 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9426:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:R3hdm1
|
UTSW |
1 |
128,106,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0017:R3hdm1
|
UTSW |
1 |
128,095,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0020:R3hdm1
|
UTSW |
1 |
128,096,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATATACTGCTACAGCTTGCTTAC -3'
(R):5'- TGAGGAAGAAACCCCTGCTG -3'
Sequencing Primer
(F):5'- TCTCCAGCATTCAGGAAGTG -3'
(R):5'- AAGAAACCCCTGCTGCTGGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation