Incidental Mutation 'R6024:R3hdm2'
ID |
479099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
R3hdm2
|
Ensembl Gene |
ENSMUSG00000025404 |
Gene Name |
R3H domain containing 2 |
Synonyms |
1300003K24Rik |
MMRRC Submission |
044196-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R6024 (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 A
at 127295349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 239
(F239I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064793]
[ENSMUST00000077046]
[ENSMUST00000105249]
[ENSMUST00000105250]
[ENSMUST00000105251]
[ENSMUST00000164161]
[ENSMUST00000164831]
[ENSMUST00000165440]
[ENSMUST00000166820]
[ENSMUST00000170336]
[ENSMUST00000169888]
|
AlphaFold |
Q80TM6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064793
AA Change: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000069724 Gene: ENSMUSG00000025404 AA Change: F239I
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: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076303 Gene: ENSMUSG00000025404 AA Change: F239I
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: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100884 Gene: ENSMUSG00000025404 AA Change: F239I
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: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100885 Gene: ENSMUSG00000025404 AA Change: F239I
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: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000100886 Gene: ENSMUSG00000025404 AA Change: F239I
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 |
probably damaging
Transcript: ENSMUST00000164831
AA Change: F239I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131007 Gene: ENSMUSG00000025404 AA Change: F239I
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: ENSMUST00000165440
AA Change: F6I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133118 Gene: ENSMUSG00000025404 AA Change: F6I
Domain | Start | End | E-Value | Type |
Pfam:SUZ
|
17 |
64 |
1.4e-13 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166820
AA Change: F239I
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126608 Gene: ENSMUSG00000025404 AA Change: F239I
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: ENSMUST00000170336
AA Change: F239I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128659 Gene: ENSMUSG00000025404 AA Change: F239I
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 |
|
Meta Mutation Damage Score |
0.1561 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,624,624 (GRCm39) |
F3782L |
probably benign |
Het |
Akr1d1 |
T |
C |
6: 37,535,417 (GRCm39) |
I267T |
probably benign |
Het |
Aoc1l1 |
A |
T |
6: 48,953,030 (GRCm39) |
K318N |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,068 (GRCm39) |
S940P |
probably benign |
Het |
Art2b |
A |
G |
7: 101,229,587 (GRCm39) |
I104T |
probably benign |
Het |
Avpr1a |
A |
G |
10: 122,285,053 (GRCm39) |
Y115C |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,367,526 (GRCm39) |
L995Q |
probably damaging |
Het |
Cenatac |
T |
C |
9: 44,329,249 (GRCm39) |
T13A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,753,152 (GRCm39) |
K210E |
possibly damaging |
Het |
Cog4 |
C |
T |
8: 111,608,112 (GRCm39) |
T735I |
probably damaging |
Het |
Creb3l4 |
G |
A |
3: 90,146,006 (GRCm39) |
S206L |
probably damaging |
Het |
Csf3r |
C |
A |
4: 125,931,310 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
T |
12: 117,994,007 (GRCm39) |
S2346R |
probably benign |
Het |
Dnai2 |
A |
T |
11: 114,643,734 (GRCm39) |
I467F |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,876 (GRCm39) |
M523K |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,802,264 (GRCm39) |
D407G |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,209,908 (GRCm39) |
I991T |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,419,299 (GRCm39) |
T345A |
probably benign |
Het |
Gm1527 |
C |
T |
3: 28,974,752 (GRCm39) |
H522Y |
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,317,696 (GRCm39) |
Y240F |
probably benign |
Het |
Hmgcl |
T |
C |
4: 135,682,926 (GRCm39) |
V126A |
probably benign |
Het |
Ifit1bl2 |
G |
T |
19: 34,597,438 (GRCm39) |
S59R |
probably benign |
Het |
Itga6 |
A |
G |
2: 71,617,577 (GRCm39) |
N32S |
probably benign |
Het |
Lcor |
C |
A |
19: 41,572,396 (GRCm39) |
P384T |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,414,160 (GRCm39) |
S779P |
probably benign |
Het |
Mctp1 |
G |
T |
13: 76,533,280 (GRCm39) |
L209F |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,915 (GRCm39) |
N97S |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,785,350 (GRCm39) |
V336E |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,557,967 (GRCm39) |
S2775R |
unknown |
Het |
Muc6 |
T |
A |
7: 141,227,841 (GRCm39) |
T1316S |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,095,567 (GRCm39) |
N65I |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,762,671 (GRCm39) |
N801D |
possibly damaging |
Het |
Nkain2 |
A |
T |
10: 31,827,281 (GRCm39) |
M103K |
probably damaging |
Het |
Nkx2-2 |
T |
A |
2: 147,025,961 (GRCm39) |
Y259F |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,897,526 (GRCm39) |
M877V |
possibly damaging |
Het |
Nxf1 |
C |
T |
19: 8,745,108 (GRCm39) |
L453F |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,255,871 (GRCm39) |
S790G |
possibly damaging |
Het |
Phf3 |
T |
C |
1: 30,902,307 (GRCm39) |
D2G |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,898 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
C |
A |
4: 57,248,653 (GRCm39) |
|
probably null |
Het |
Pygl |
T |
C |
12: 70,243,841 (GRCm39) |
T625A |
probably benign |
Het |
Sesn1 |
A |
T |
10: 41,772,196 (GRCm39) |
I242F |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,733,768 (GRCm39) |
T105I |
probably benign |
Het |
Skint3 |
T |
C |
4: 112,147,543 (GRCm39) |
F350S |
possibly damaging |
Het |
Slco5a1 |
T |
C |
1: 13,014,294 (GRCm39) |
Y320C |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,669,416 (GRCm39) |
S159P |
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,498 (GRCm39) |
S1981P |
probably damaging |
Het |
Tmem200c |
A |
C |
17: 69,148,722 (GRCm39) |
D435A |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,966,066 (GRCm39) |
V1125A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,644,487 (GRCm39) |
V4762A |
possibly damaging |
Het |
Unc5d |
A |
G |
8: 29,365,539 (GRCm39) |
S149P |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,040,203 (GRCm39) |
N1561I |
probably damaging |
Het |
Wdr4 |
A |
T |
17: 31,720,272 (GRCm39) |
|
probably benign |
Het |
Wdr49 |
T |
G |
3: 75,209,133 (GRCm39) |
E612D |
probably benign |
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 |
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'- GTCACACAAAGATTTCACTTGAACC -3'
(R):5'- GAACAGCGCTGTGTAGTTTTC -3'
Sequencing Primer
(F):5'- CAAAGATTTCACTTGAACCTTCATG -3'
(R):5'- AGCGCTGTGTAGTTTTCCATTTTAAG -3'
|
Posted On |
2017-06-26 |