Incidental Mutation 'IGL01397:R3hdm2'
ID |
79484 |
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 # |
IGL01397
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127294719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 201
(R201W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000170336]
[ENSMUST00000164831]
[ENSMUST00000166820]
[ENSMUST00000164161]
[ENSMUST00000165440]
[ENSMUST00000169888]
|
AlphaFold |
Q80TM6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064793
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069724 Gene: ENSMUSG00000025404 AA Change: R201W
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 damaging
Transcript: ENSMUST00000077046
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076303 Gene: ENSMUSG00000025404 AA Change: R201W
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 damaging
Transcript: ENSMUST00000105249
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100884 Gene: ENSMUSG00000025404 AA Change: R201W
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 damaging
Transcript: ENSMUST00000105250
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100885 Gene: ENSMUSG00000025404 AA Change: R201W
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 damaging
Transcript: ENSMUST00000105251
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000100886 Gene: ENSMUSG00000025404 AA Change: R201W
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 |
noncoding transcript
Transcript: ENSMUST00000163794
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170336
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128659 Gene: ENSMUSG00000025404 AA Change: R201W
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 |
probably damaging
Transcript: ENSMUST00000164831
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131007 Gene: ENSMUSG00000025404 AA Change: R201W
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 damaging
Transcript: ENSMUST00000166820
AA Change: R201W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126608 Gene: ENSMUSG00000025404 AA Change: R201W
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 |
noncoding transcript
Transcript: ENSMUST00000171823
|
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: ENSMUST00000165440
|
SMART Domains |
Protein: ENSMUSP00000133118 Gene: ENSMUSG00000025404
Domain | Start | End | E-Value | Type |
Pfam:SUZ
|
17 |
64 |
1.4e-13 |
PFAM |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
Het |
|
Other mutations in R3hdm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-11-05 |