Incidental Mutation 'IGL02647:R3hdm2'
| ID |
301973 |
| 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 # |
IGL02647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127295353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 240
(S240L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000165440]
[ENSMUST00000166820]
[ENSMUST00000164831]
[ENSMUST00000170336]
[ENSMUST00000169888]
|
| AlphaFold |
Q80TM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064793
AA Change: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S240L
| 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 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: ENSMUST00000165440
AA Change: S7L
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404
AA Change: S7L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
17 |
64 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166820
AA Change: S240L
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: S240L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S240L
| 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
AA Change: S240L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S240L
| 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: ENSMUST00000171823
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
| Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
| Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
| Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
| Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
| Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
| Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
| Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
| Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
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 |
|
IGL02549:R3hdm2
|
APN |
10 |
127,320,094 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation