Incidental Mutation 'R5380:R3hdm2'
| ID |
425811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm2
|
| Ensembl Gene |
ENSMUSG00000025404 |
| Gene Name |
R3H domain containing 2 |
| Synonyms |
1300003K24Rik |
| MMRRC Submission |
042955-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R5380 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127321316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 658
(V658A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000164831]
[ENSMUST00000166820]
[ENSMUST00000169888]
[ENSMUST00000170336]
[ENSMUST00000168079]
|
| AlphaFold |
Q80TM6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064793
AA Change: V645A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: V645A
| 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: V690A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: V690A
| 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
AA Change: V638A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: V638A
| 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: V672A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: V672A
| 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: V672A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: V672A
| 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 |
noncoding transcript
Transcript: ENSMUST00000164469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168268
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164831
AA Change: V624A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: V624A
| 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: V690A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: V690A
| 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 |
possibly damaging
Transcript: ENSMUST00000169888
AA Change: V389A
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: V389A
| 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 damaging
Transcript: ENSMUST00000170336
AA Change: V658A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: V658A
| 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: ENSMUST00000168079
|
| SMART Domains |
Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
| Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
| Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
| Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
| Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
| Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
| Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,499,044 (GRCm39) |
I53F |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,171 (GRCm39) |
Y128H |
probably benign |
Het |
| Prpf6 |
T |
A |
2: 181,250,059 (GRCm39) |
L73Q |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,129,226 (GRCm39) |
T23A |
probably damaging |
Het |
| Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
| Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
| Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
| V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
A |
G |
1: 136,553,676 (GRCm39) |
K218R |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGAGCTCCTTCATTGTGTC -3'
(R):5'- TGGCATGGCGACTGGTAAAG -3'
Sequencing Primer
(F):5'- AGAGCTCCTTCATTGTGTCTGATATC -3'
(R):5'- GGTCAATGGGAAATGCGCCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation