Incidental Mutation 'IGL02549:R3hdm2'
ID |
297995 |
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 # |
IGL02549
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 127320094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000166820]
[ENSMUST00000169888]
[ENSMUST00000164831]
[ENSMUST00000170336]
[ENSMUST00000168079]
|
AlphaFold |
Q80TM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064793
|
SMART Domains |
Protein: ENSMUSP00000069724 Gene: ENSMUSG00000025404
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 |
probably benign
Transcript: ENSMUST00000077046
|
SMART Domains |
Protein: ENSMUSP00000076303 Gene: ENSMUSG00000025404
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 |
probably benign
Transcript: ENSMUST00000105249
|
SMART Domains |
Protein: ENSMUSP00000100884 Gene: ENSMUSG00000025404
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 |
probably benign
Transcript: ENSMUST00000105250
|
SMART Domains |
Protein: ENSMUSP00000100885 Gene: ENSMUSG00000025404
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: ENSMUST00000105251
|
SMART Domains |
Protein: ENSMUSP00000100886 Gene: ENSMUSG00000025404
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 |
probably benign
Transcript: ENSMUST00000166820
|
SMART Domains |
Protein: ENSMUSP00000126608 Gene: ENSMUSG00000025404
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 benign
Transcript: ENSMUST00000169888
|
SMART Domains |
Protein: ENSMUSP00000126760 Gene: ENSMUSG00000025404
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 |
probably benign
Transcript: ENSMUST00000164831
|
SMART Domains |
Protein: ENSMUSP00000131007 Gene: ENSMUSG00000025404
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: ENSMUST00000170336
|
SMART Domains |
Protein: ENSMUSP00000128659 Gene: ENSMUSG00000025404
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 |
noncoding transcript
Transcript: ENSMUST00000164469
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171823
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably damaging |
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 |
IGL02114:R3hdm2
|
APN |
10 |
127,319,978 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02116:R3hdm2
|
APN |
10 |
127,334,421 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |