Incidental Mutation 'R7168:R3hdm1'
| ID |
558031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045263-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128144232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 800
(T800I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036288
AA Change: T800I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: T800I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,262,831 (GRCm39) |
D1388V |
probably damaging |
Het |
| 2900026A02Rik |
C |
A |
5: 113,285,659 (GRCm39) |
R65L |
probably damaging |
Het |
| Abcb10 |
A |
T |
8: 124,693,350 (GRCm39) |
L318Q |
|
Het |
| Abhd18 |
T |
A |
3: 40,889,371 (GRCm39) |
V417D |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,743,769 (GRCm39) |
K99E |
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,296,241 (GRCm39) |
I206N |
possibly damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,545,328 (GRCm39) |
S5652R |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,579,426 (GRCm39) |
T221M |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,893,831 (GRCm39) |
M854K |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,027,155 (GRCm39) |
T375S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,813 (GRCm39) |
C210* |
probably null |
Het |
| Arid3b |
A |
T |
9: 57,712,818 (GRCm39) |
D232E |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,919,282 (GRCm39) |
C342Y |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,476,230 (GRCm39) |
M101V |
probably benign |
Het |
| Brd3 |
G |
A |
2: 27,344,411 (GRCm39) |
R440C |
possibly damaging |
Het |
| Deaf1 |
C |
T |
7: 140,904,509 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,858,610 (GRCm39) |
T300A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,788,529 (GRCm39) |
I519F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,808 (GRCm39) |
F2820S |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,925,971 (GRCm39) |
I132T |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,885,090 (GRCm39) |
V810A |
probably damaging |
Het |
| Gm14403 |
A |
C |
2: 177,201,318 (GRCm39) |
Q179P |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,250 (GRCm39) |
M251V |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,561,114 (GRCm39) |
S298P |
probably benign |
Het |
| Impact |
T |
A |
18: 13,119,370 (GRCm39) |
|
probably null |
Het |
| Itgal |
T |
C |
7: 126,929,385 (GRCm39) |
F1101L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,656,064 (GRCm39) |
R579Q |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,427,425 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
G |
16: 22,898,391 (GRCm39) |
D597G |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,836,332 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,242,148 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,598,361 (GRCm39) |
C614F |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,810 (GRCm39) |
E168G |
unknown |
Het |
| Lvrn |
A |
C |
18: 47,014,389 (GRCm39) |
K525T |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,719,184 (GRCm39) |
R2249H |
probably damaging |
Het |
| Mmp16 |
G |
T |
4: 18,110,550 (GRCm39) |
G449C |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,785,392 (GRCm39) |
V350A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,748,513 (GRCm39) |
L361Q |
probably damaging |
Het |
| Myom1 |
T |
A |
17: 71,396,942 (GRCm39) |
S1063R |
probably benign |
Het |
| Notch4 |
A |
C |
17: 34,791,667 (GRCm39) |
H582P |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,964,837 (GRCm39) |
C1474S |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,048 (GRCm39) |
I231N |
probably damaging |
Het |
| Or4g17 |
A |
T |
2: 111,210,224 (GRCm39) |
D293V |
probably damaging |
Het |
| Or5d36 |
A |
C |
2: 87,900,921 (GRCm39) |
N268K |
probably benign |
Het |
| Or8b40 |
G |
T |
9: 38,027,959 (GRCm39) |
S294I |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,513,946 (GRCm39) |
V241D |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,736,622 (GRCm39) |
N654K |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,607,446 (GRCm39) |
G121D |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,659,874 (GRCm39) |
S1260P |
probably benign |
Het |
| Pwp1 |
G |
T |
10: 85,720,401 (GRCm39) |
R346I |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Resf1 |
T |
G |
6: 149,229,341 (GRCm39) |
F796V |
probably benign |
Het |
| Slc1a3 |
G |
T |
15: 8,675,386 (GRCm39) |
N206K |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,719,591 (GRCm39) |
V540A |
probably benign |
Het |
| Sntb1 |
G |
A |
15: 55,654,661 (GRCm39) |
P265S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,343,674 (GRCm39) |
V56E |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,276 (GRCm39) |
T55S |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,859,404 (GRCm39) |
V206G |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,918,445 (GRCm39) |
N1479S |
probably benign |
Het |
| Trpv2 |
T |
A |
11: 62,473,914 (GRCm39) |
C190S |
probably benign |
Het |
| Umod |
A |
T |
7: 119,077,549 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,585 (GRCm39) |
Y2862N |
|
Het |
| Vmn1r158 |
A |
G |
7: 22,490,101 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zfp420 |
A |
G |
7: 29,574,791 (GRCm39) |
Y337C |
probably damaging |
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 |
|
|
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 |
|
|
R8391:R3hdm1
|
UTSW |
1 |
128,121,215 (GRCm39) |
missense |
|
|
|
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'- AGGGCACGTAGACCATTGTG -3'
(R):5'- CAGGGAATGGAATGATTAGCTTATG -3'
Sequencing Primer
(F):5'- CCATTGTGGTGATGTTGTGGTAAGC -3'
(R):5'- TCTAGCACCTATATGGAGGGTCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation