Incidental Mutation 'IGL02114:R3hdm2'
ID |
280276 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
R3hdm2
|
Ensembl Gene |
ENSMUSG00000025404 |
Gene Name |
R3H domain containing 2 |
Synonyms |
1300003K24Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
IGL02114
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 127319978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 481
(M481R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000170336]
[ENSMUST00000166820]
[ENSMUST00000164831]
[ENSMUST00000169888]
[ENSMUST00000168079]
|
AlphaFold |
Q80TM6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064793
AA Change: M502R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000069724 Gene: ENSMUSG00000025404 AA Change: M502R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
low complexity region
|
699 |
730 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077046
AA Change: M547R
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076303 Gene: ENSMUSG00000025404 AA Change: M547R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
Pfam:SUZ
|
250 |
303 |
7.4e-14 |
PFAM |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
low complexity region
|
430 |
461 |
N/A |
INTRINSIC |
low complexity region
|
474 |
499 |
N/A |
INTRINSIC |
low complexity region
|
744 |
775 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105249
AA Change: M495R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100884 Gene: ENSMUSG00000025404 AA Change: M495R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
Pfam:SUZ
|
250 |
303 |
5.4e-12 |
PFAM |
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
low complexity region
|
692 |
723 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105250
AA Change: M529R
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100885 Gene: ENSMUSG00000025404 AA Change: M529R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
Pfam:SUZ
|
250 |
303 |
5.6e-12 |
PFAM |
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
low complexity region
|
456 |
481 |
N/A |
INTRINSIC |
low complexity region
|
726 |
757 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105251
AA Change: M529R
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100886 Gene: ENSMUSG00000025404 AA Change: M529R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
Pfam:SUZ
|
250 |
303 |
5.6e-12 |
PFAM |
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
low complexity region
|
412 |
443 |
N/A |
INTRINSIC |
low complexity region
|
456 |
481 |
N/A |
INTRINSIC |
low complexity region
|
726 |
757 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164161
|
SMART Domains |
Protein: ENSMUSP00000126185 Gene: ENSMUSG00000025404
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170336
AA Change: M515R
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128659 Gene: ENSMUSG00000025404 AA Change: M515R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
low complexity region
|
442 |
467 |
N/A |
INTRINSIC |
low complexity region
|
712 |
743 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166820
AA Change: M547R
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126608 Gene: ENSMUSG00000025404 AA Change: M547R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
Pfam:SUZ
|
250 |
303 |
5.7e-12 |
PFAM |
low complexity region
|
338 |
350 |
N/A |
INTRINSIC |
low complexity region
|
430 |
461 |
N/A |
INTRINSIC |
low complexity region
|
474 |
499 |
N/A |
INTRINSIC |
low complexity region
|
744 |
775 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164831
AA Change: M481R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131007 Gene: ENSMUSG00000025404 AA Change: M481R
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
low complexity region
|
109 |
132 |
N/A |
INTRINSIC |
R3H
|
152 |
229 |
1.26e-16 |
SMART |
low complexity region
|
306 |
318 |
N/A |
INTRINSIC |
low complexity region
|
398 |
429 |
N/A |
INTRINSIC |
low complexity region
|
678 |
709 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169888
AA Change: M246R
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126760 Gene: ENSMUSG00000025404 AA Change: M246R
Domain | Start | End | E-Value | Type |
Pfam:SUZ
|
7 |
54 |
4.7e-12 |
PFAM |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
low complexity region
|
163 |
194 |
N/A |
INTRINSIC |
low complexity region
|
443 |
474 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168268
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168079
|
SMART Domains |
Protein: ENSMUSP00000130506 Gene: ENSMUSG00000025404
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
probably benign |
Het |
|
Other mutations in R3hdm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:R3hdm2
|
APN |
10 |
127,294,719 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02116:R3hdm2
|
APN |
10 |
127,334,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:R3hdm2
|
APN |
10 |
127,320,094 (GRCm39) |
splice site |
probably benign |
|
IGL02647:R3hdm2
|
APN |
10 |
127,295,353 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02696:R3hdm2
|
APN |
10 |
127,300,888 (GRCm39) |
splice site |
probably null |
|
IGL02732:R3hdm2
|
APN |
10 |
127,319,929 (GRCm39) |
missense |
probably benign |
0.43 |
R0131:R3hdm2
|
UTSW |
10 |
127,334,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:R3hdm2
|
UTSW |
10 |
127,334,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:R3hdm2
|
UTSW |
10 |
127,334,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0157:R3hdm2
|
UTSW |
10 |
127,307,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R0179:R3hdm2
|
UTSW |
10 |
127,330,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:R3hdm2
|
UTSW |
10 |
127,320,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:R3hdm2
|
UTSW |
10 |
127,294,042 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0505:R3hdm2
|
UTSW |
10 |
127,293,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:R3hdm2
|
UTSW |
10 |
127,280,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R1188:R3hdm2
|
UTSW |
10 |
127,288,624 (GRCm39) |
missense |
probably benign |
0.02 |
R1466:R3hdm2
|
UTSW |
10 |
127,312,559 (GRCm39) |
missense |
probably benign |
0.01 |
R1466:R3hdm2
|
UTSW |
10 |
127,312,559 (GRCm39) |
missense |
probably benign |
0.01 |
R1503:R3hdm2
|
UTSW |
10 |
127,307,695 (GRCm39) |
nonsense |
probably null |
|
R1584:R3hdm2
|
UTSW |
10 |
127,312,559 (GRCm39) |
missense |
probably benign |
0.01 |
R1652:R3hdm2
|
UTSW |
10 |
127,330,960 (GRCm39) |
missense |
probably benign |
0.00 |
R1901:R3hdm2
|
UTSW |
10 |
127,334,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3735:R3hdm2
|
UTSW |
10 |
127,300,879 (GRCm39) |
missense |
probably benign |
|
R5261:R3hdm2
|
UTSW |
10 |
127,334,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R5329:R3hdm2
|
UTSW |
10 |
127,294,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R5379:R3hdm2
|
UTSW |
10 |
127,307,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5380:R3hdm2
|
UTSW |
10 |
127,321,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:R3hdm2
|
UTSW |
10 |
127,321,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R5558:R3hdm2
|
UTSW |
10 |
127,280,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5773:R3hdm2
|
UTSW |
10 |
127,280,172 (GRCm39) |
utr 5 prime |
probably benign |
|
R5936:R3hdm2
|
UTSW |
10 |
127,307,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:R3hdm2
|
UTSW |
10 |
127,295,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:R3hdm2
|
UTSW |
10 |
127,320,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:R3hdm2
|
UTSW |
10 |
127,320,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:R3hdm2
|
UTSW |
10 |
127,320,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:R3hdm2
|
UTSW |
10 |
127,294,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R7253:R3hdm2
|
UTSW |
10 |
127,317,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7305:R3hdm2
|
UTSW |
10 |
127,312,547 (GRCm39) |
missense |
probably benign |
0.08 |
R7349:R3hdm2
|
UTSW |
10 |
127,328,515 (GRCm39) |
missense |
probably benign |
|
R7431:R3hdm2
|
UTSW |
10 |
127,294,016 (GRCm39) |
missense |
probably benign |
0.16 |
R7891:R3hdm2
|
UTSW |
10 |
127,334,443 (GRCm39) |
missense |
probably benign |
0.07 |
R8477:R3hdm2
|
UTSW |
10 |
127,320,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R8503:R3hdm2
|
UTSW |
10 |
127,328,481 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8782:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8787:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8789:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9041:R3hdm2
|
UTSW |
10 |
127,320,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9200:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:R3hdm2
|
UTSW |
10 |
127,293,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:R3hdm2
|
UTSW |
10 |
127,334,298 (GRCm39) |
missense |
probably benign |
0.01 |
R9760:R3hdm2
|
UTSW |
10 |
127,280,182 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |