Incidental Mutation 'R8789:R3hdm2'
| ID |
670826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm2
|
| Ensembl Gene |
ENSMUSG00000025404 |
| Gene Name |
R3H domain containing 2 |
| Synonyms |
1300003K24Rik |
| MMRRC Submission |
068608-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R8789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127216201-127335253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 127293521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 142
(S142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000164831]
[ENSMUST00000165440]
[ENSMUST00000166820]
[ENSMUST00000168780]
[ENSMUST00000169888]
[ENSMUST00000170336]
|
| AlphaFold |
Q80TM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064793
AA Change: S142A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: S142A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: S142A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: S142A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: S142A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S142A
| 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 damaging
Transcript: ENSMUST00000164831
AA Change: S142A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: ENSMUST00000165440
|
| SMART Domains |
Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SUZ
|
17 |
64 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166820
AA Change: S142A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S142A
| 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: ENSMUST00000168780
|
| SMART Domains |
Protein: ENSMUSP00000127872
Gene: ENSMUSG00000025404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
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 damaging
Transcript: ENSMUST00000170336
AA Change: S142A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S142A
| 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 |
|
| Meta Mutation Damage Score |
0.0767 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
T |
2: 158,478,604 (GRCm39) |
Q485* |
probably null |
Het |
| Arsa |
C |
T |
15: 89,358,260 (GRCm39) |
V350I |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cav2 |
T |
C |
6: 17,281,996 (GRCm39) |
Y85H |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,424,784 (GRCm39) |
Q570R |
probably damaging |
Het |
| Cd72 |
A |
G |
4: 43,452,628 (GRCm39) |
S122P |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,186,367 (GRCm39) |
M619T |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,637,551 (GRCm39) |
V233F |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,673,292 (GRCm39) |
Y803H |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,554 (GRCm39) |
S596P |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,375,359 (GRCm39) |
E251G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,266,722 (GRCm39) |
N68I |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,642,933 (GRCm39) |
N466S |
possibly damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,106 (GRCm39) |
I71N |
probably damaging |
Het |
| Cyp2j11 |
C |
T |
4: 96,227,405 (GRCm39) |
E204K |
probably damaging |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,848 (GRCm39) |
F469S |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,495 (GRCm39) |
S65T |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,426 (GRCm39) |
N443D |
unknown |
Het |
| Elp3 |
G |
A |
14: 65,802,870 (GRCm39) |
P243S |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,143 (GRCm39) |
M292K |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,822 (GRCm39) |
S3852P |
possibly damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm10912 |
A |
C |
2: 103,897,046 (GRCm39) |
K62Q |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Hapstr1 |
T |
C |
16: 8,660,865 (GRCm39) |
I114T |
probably benign |
Het |
| Hoxc12 |
T |
C |
15: 102,846,732 (GRCm39) |
I208T |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,836,602 (GRCm39) |
P30L |
unknown |
Het |
| Itgal |
A |
G |
7: 126,904,421 (GRCm39) |
H298R |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,761,148 (GRCm39) |
S160P |
probably benign |
Het |
| Or13c7d |
A |
T |
4: 43,770,793 (GRCm39) |
C73S |
probably damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,135 (GRCm39) |
F177S |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,836,581 (GRCm39) |
D284E |
unknown |
Het |
| Pmp2 |
T |
A |
3: 10,247,564 (GRCm39) |
I42F |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,216,494 (GRCm39) |
D115G |
probably damaging |
Het |
| Pym1 |
T |
C |
10: 128,601,073 (GRCm39) |
V32A |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,588,546 (GRCm39) |
H1105R |
probably benign |
Het |
| Rimkla |
T |
C |
4: 119,349,607 (GRCm39) |
Y17C |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,391,924 (GRCm39) |
R623K |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,999,328 (GRCm39) |
N1207K |
probably damaging |
Het |
| Scg2 |
G |
T |
1: 79,413,500 (GRCm39) |
Q368K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,017,213 (GRCm39) |
T269I |
probably damaging |
Het |
| Tsc22d2 |
A |
T |
3: 58,367,438 (GRCm39) |
K663* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,137,494 (GRCm39) |
N1026K |
possibly damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,321,609 (GRCm39) |
D379G |
unknown |
Het |
| Vps13d |
T |
C |
4: 144,795,743 (GRCm39) |
M3700V |
|
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,288 (GRCm39) |
L136P |
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 |
|
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 |
|
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'- CCTCACAGAGCTGACAGTAAATG -3'
(R):5'- TGTTGTCAACTCGTCAAAACAC -3'
Sequencing Primer
(F):5'- AATGCCATTCAGGGTTTCATGC -3'
(R):5'- GTCAAAACACAGAAATCTCAATGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation