Incidental Mutation 'R7210:R3hdm1'
| ID |
560976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045239-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128138945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 718
(Y718C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000190056]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036288
AA Change: Y718C
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: Y718C
| 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 |
possibly damaging
Transcript: ENSMUST00000190056
AA Change: Y375C
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: Y375C
| 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: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
A |
11: 94,264,767 (GRCm39) |
P194S |
probably benign |
Het |
| Ackr2 |
C |
T |
9: 121,737,943 (GRCm39) |
A106V |
possibly damaging |
Het |
| Alg3 |
G |
A |
16: 20,424,644 (GRCm39) |
P112L |
unknown |
Het |
| Areg |
T |
A |
5: 91,288,764 (GRCm39) |
Y23* |
probably null |
Het |
| Aspn |
A |
G |
13: 49,719,967 (GRCm39) |
T328A |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,241 (GRCm39) |
E249D |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,290 (GRCm39) |
Q2650* |
probably null |
Het |
| Btbd3 |
A |
T |
2: 138,125,664 (GRCm39) |
R283W |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,955,615 (GRCm39) |
H1035R |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,433,900 (GRCm39) |
Y959* |
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,515,286 (GRCm39) |
Y25C |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 3,902,121 (GRCm39) |
H2373Y |
possibly damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,086,547 (GRCm39) |
L373P |
probably damaging |
Het |
| Cyp8b1 |
T |
A |
9: 121,744,246 (GRCm39) |
D362V |
probably damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,057,932 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
T |
C |
5: 27,803,801 (GRCm39) |
I249T |
probably damaging |
Het |
| Fam149b |
T |
G |
14: 20,428,540 (GRCm39) |
I475M |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,476,540 (GRCm39) |
Y1862C |
probably damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,353,719 (GRCm39) |
N355Y |
possibly damaging |
Het |
| Fgd6 |
C |
T |
10: 93,969,954 (GRCm39) |
T1201I |
probably damaging |
Het |
| Fndc8 |
A |
T |
11: 82,788,692 (GRCm39) |
D174V |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,481,527 (GRCm39) |
H26R |
probably benign |
Het |
| Gm37240 |
T |
A |
3: 84,405,114 (GRCm39) |
T230S |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,464,135 (GRCm39) |
Q609R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 120,957,441 (GRCm39) |
T644K |
unknown |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,564 (GRCm39) |
I298L |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,686,034 (GRCm39) |
D85G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,471,411 (GRCm39) |
V1504A |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,831,568 (GRCm39) |
L1664P |
probably damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,794,722 (GRCm39) |
L82S |
possibly damaging |
Het |
| Myo7b |
G |
A |
18: 32,140,155 (GRCm39) |
R212C |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,114 (GRCm39) |
V684A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nop58 |
G |
T |
1: 59,749,539 (GRCm39) |
|
probably null |
Het |
| Nudt13 |
T |
A |
14: 20,359,852 (GRCm39) |
I193N |
possibly damaging |
Het |
| Nyap1 |
C |
A |
5: 137,736,244 (GRCm39) |
R81L |
probably damaging |
Het |
| Or1e28-ps1 |
T |
C |
11: 73,615,699 (GRCm39) |
I50M |
possibly damaging |
Het |
| Oxct2b |
A |
C |
4: 123,010,069 (GRCm39) |
|
probably benign |
Het |
| Pcf11 |
C |
T |
7: 92,312,684 (GRCm39) |
A230T |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,085,582 (GRCm39) |
*695R |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,794,840 (GRCm39) |
S2176P |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,093,543 (GRCm39) |
R133L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,521,032 (GRCm39) |
N713K |
probably damaging |
Het |
| Ptrh2 |
A |
T |
11: 86,580,793 (GRCm39) |
T137S |
probably benign |
Het |
| Rftn1 |
T |
A |
17: 50,301,335 (GRCm39) |
R505* |
probably null |
Het |
| Rps15a |
A |
G |
7: 117,708,334 (GRCm39) |
F128L |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,408 (GRCm39) |
M177K |
possibly damaging |
Het |
| Smgc |
C |
A |
15: 91,744,492 (GRCm39) |
P631Q |
probably damaging |
Het |
| Sox2 |
T |
C |
3: 34,705,306 (GRCm39) |
S248P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,760,808 (GRCm39) |
K702E |
probably damaging |
Het |
| Tes |
G |
T |
6: 17,104,761 (GRCm39) |
C414F |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,650,280 (GRCm39) |
C14S |
probably null |
Het |
| Tle3 |
C |
T |
9: 61,319,587 (GRCm39) |
P452S |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,666,670 (GRCm39) |
L131R |
possibly damaging |
Het |
| Tnip3 |
C |
T |
6: 65,570,495 (GRCm39) |
R30* |
probably null |
Het |
| Tnrc6b |
G |
T |
15: 80,813,486 (GRCm39) |
G1748W |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,558,284 (GRCm39) |
D459A |
probably damaging |
Het |
| Zdhhc2 |
A |
T |
8: 40,920,480 (GRCm39) |
R246S |
probably damaging |
Het |
| Zscan22 |
T |
A |
7: 12,640,748 (GRCm39) |
C331S |
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 |
|
|
R7168:R3hdm1
|
UTSW |
1 |
128,144,232 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TGACCCAGTGAATTTCCTCACC -3'
(R):5'- CTATCCCTAAAGCAGGTGAGAG -3'
Sequencing Primer
(F):5'- GTGAATTTCCTCACCCATAGAAGTC -3'
(R):5'- GAAAACATACCTGATATGATGGCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation