Incidental Mutation 'R0961:R3hdm1'
| ID |
81855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
R3hdm1
|
| Ensembl Gene |
ENSMUSG00000056211 |
| Gene Name |
R3H domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
039090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0961 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
128031038-128165473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128121333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 279
(T279I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036288]
[ENSMUST00000187900]
[ENSMUST00000190056]
|
| AlphaFold |
E9Q9Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036288
AA Change: T622I
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: T622I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
8.8e-15 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
927 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187900
|
| SMART Domains |
Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
99 |
N/A |
INTRINSIC |
|
R3H
|
151 |
228 |
3.18e-22 |
SMART |
|
Pfam:SUZ
|
249 |
302 |
2.7e-14 |
PFAM |
|
low complexity region
|
391 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190056
AA Change: T279I
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: T279I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
299 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.6%
- 20x: 89.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,686 (GRCm39) |
S331A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4933412E24Rik |
T |
C |
15: 59,887,160 (GRCm39) |
I427V |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,960,208 (GRCm39) |
K664* |
probably null |
Het |
| Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,349,230 (GRCm39) |
D665E |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,089,070 (GRCm39) |
T352M |
probably damaging |
Het |
| Atg9a |
G |
A |
1: 75,163,390 (GRCm39) |
L237F |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,152,098 (GRCm39) |
K672T |
possibly damaging |
Het |
| Ccdc63 |
T |
G |
5: 122,249,009 (GRCm39) |
K440T |
possibly damaging |
Het |
| Cd55b |
A |
T |
1: 130,341,813 (GRCm39) |
W275R |
probably damaging |
Het |
| Col4a3 |
T |
C |
1: 82,686,297 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,195 (GRCm39) |
D204E |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,812,964 (GRCm39) |
V148A |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,531 (GRCm39) |
V610E |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,577 (GRCm39) |
I842N |
probably damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fzd6 |
C |
T |
15: 38,889,073 (GRCm39) |
L64F |
probably damaging |
Het |
| Galntl6 |
A |
T |
8: 59,364,374 (GRCm39) |
H45Q |
probably benign |
Het |
| Gbp7 |
C |
A |
3: 142,247,318 (GRCm39) |
S276* |
probably null |
Het |
| Gnb5 |
A |
T |
9: 75,242,933 (GRCm39) |
I168F |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,805,403 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
C |
T |
8: 23,670,927 (GRCm39) |
C95Y |
probably damaging |
Het |
| Gstm7 |
T |
A |
3: 107,834,302 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,755,745 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kank4 |
G |
A |
4: 98,644,756 (GRCm39) |
R999W |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,219 (GRCm39) |
V92A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,639,974 (GRCm39) |
D89G |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,378 (GRCm39) |
T103A |
probably benign |
Het |
| Lamc1 |
CGCTGGC |
CGC |
1: 153,097,392 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
G |
T |
1: 153,097,446 (GRCm39) |
L1533I |
probably benign |
Het |
| Lca5l |
T |
C |
16: 95,962,560 (GRCm39) |
H455R |
possibly damaging |
Het |
| Lmo7 |
C |
A |
14: 102,031,705 (GRCm39) |
T33K |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,640,895 (GRCm39) |
|
probably benign |
Het |
| Mep1b |
T |
A |
18: 21,221,786 (GRCm39) |
Y245* |
probably null |
Het |
| Mettl24 |
A |
G |
10: 40,686,615 (GRCm39) |
T331A |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,422,271 (GRCm39) |
D2467E |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,773,280 (GRCm39) |
S1871P |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,165,193 (GRCm39) |
L502P |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,366,028 (GRCm39) |
N588D |
possibly damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,814 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or8k16 |
A |
T |
2: 85,519,790 (GRCm39) |
T6S |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,105,731 (GRCm39) |
S112P |
probably benign |
Het |
| Rere |
A |
G |
4: 150,699,829 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,709,122 (GRCm39) |
E4779V |
unknown |
Het |
| Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,399,484 (GRCm39) |
H392R |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,585,618 (GRCm39) |
T477A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,618 (GRCm39) |
V922A |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,870,075 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,523,920 (GRCm39) |
D705G |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,188 (GRCm39) |
S288T |
probably benign |
Het |
| Tsga10 |
A |
G |
1: 37,800,509 (GRCm39) |
|
probably null |
Het |
| Usp18 |
G |
A |
6: 121,238,452 (GRCm39) |
A200T |
probably benign |
Het |
| Zfp759 |
A |
T |
13: 67,287,927 (GRCm39) |
T493S |
probably benign |
Het |
|
| Other mutations in R3hdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:R3hdm1
|
APN |
1 |
128,164,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00799:R3hdm1
|
APN |
1 |
128,102,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:R3hdm1
|
APN |
1 |
128,163,369 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:R3hdm1
|
APN |
1 |
128,164,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00990:R3hdm1
|
APN |
1 |
128,089,933 (GRCm39) |
intron |
probably benign |
|
|
IGL01137:R3hdm1
|
APN |
1 |
128,109,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01323:R3hdm1
|
APN |
1 |
128,144,280 (GRCm39) |
missense |
probably benign |
|
|
IGL01461:R3hdm1
|
APN |
1 |
128,106,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:R3hdm1
|
APN |
1 |
128,114,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01813:R3hdm1
|
APN |
1 |
128,102,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01837:R3hdm1
|
APN |
1 |
128,114,497 (GRCm39) |
nonsense |
probably null |
|
|
IGL01934:R3hdm1
|
APN |
1 |
128,164,272 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02074:R3hdm1
|
APN |
1 |
128,096,775 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02532:R3hdm1
|
APN |
1 |
128,124,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02606:R3hdm1
|
APN |
1 |
128,118,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02851:R3hdm1
|
APN |
1 |
128,102,677 (GRCm39) |
splice site |
probably benign |
|
|
driven
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:R3hdm1
|
UTSW |
1 |
128,138,929 (GRCm39) |
splice site |
probably benign |
|
|
R0280:R3hdm1
|
UTSW |
1 |
128,090,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0482:R3hdm1
|
UTSW |
1 |
128,112,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0521:R3hdm1
|
UTSW |
1 |
128,121,440 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0578:R3hdm1
|
UTSW |
1 |
128,159,174 (GRCm39) |
nonsense |
probably null |
|
|
R0698:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0701:R3hdm1
|
UTSW |
1 |
128,109,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1026:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1141:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1319:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1320:R3hdm1
|
UTSW |
1 |
128,159,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1511:R3hdm1
|
UTSW |
1 |
128,124,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:R3hdm1
|
UTSW |
1 |
128,162,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:R3hdm1
|
UTSW |
1 |
128,096,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2140:R3hdm1
|
UTSW |
1 |
128,118,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:R3hdm1
|
UTSW |
1 |
128,114,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2447:R3hdm1
|
UTSW |
1 |
128,114,666 (GRCm39) |
intron |
probably benign |
|
|
R4564:R3hdm1
|
UTSW |
1 |
128,149,396 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4640:R3hdm1
|
UTSW |
1 |
128,102,975 (GRCm39) |
splice site |
probably benign |
|
|
R4649:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:R3hdm1
|
UTSW |
1 |
128,112,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:R3hdm1
|
UTSW |
1 |
128,164,503 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5393:R3hdm1
|
UTSW |
1 |
128,159,084 (GRCm39) |
missense |
probably benign |
|
|
R5554:R3hdm1
|
UTSW |
1 |
128,164,409 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5979:R3hdm1
|
UTSW |
1 |
128,138,960 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6123:R3hdm1
|
UTSW |
1 |
128,096,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6185:R3hdm1
|
UTSW |
1 |
128,079,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6618:R3hdm1
|
UTSW |
1 |
128,121,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6636:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6639:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R6756:R3hdm1
|
UTSW |
1 |
128,090,548 (GRCm39) |
frame shift |
probably null |
|
|
R7168:R3hdm1
|
UTSW |
1 |
128,144,232 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7210:R3hdm1
|
UTSW |
1 |
128,138,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7367:R3hdm1
|
UTSW |
1 |
128,081,129 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7536:R3hdm1
|
UTSW |
1 |
128,109,948 (GRCm39) |
splice site |
probably null |
|
|
R7896:R3hdm1
|
UTSW |
1 |
128,096,703 (GRCm39) |
splice site |
probably null |
|
|
R8391:R3hdm1
|
UTSW |
1 |
128,121,215 (GRCm39) |
missense |
|
|
|
R8486:R3hdm1
|
UTSW |
1 |
128,106,657 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8490:R3hdm1
|
UTSW |
1 |
128,162,864 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8947:R3hdm1
|
UTSW |
1 |
128,102,694 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8990:R3hdm1
|
UTSW |
1 |
128,106,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9195:R3hdm1
|
UTSW |
1 |
128,089,975 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9426:R3hdm1
|
UTSW |
1 |
128,164,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:R3hdm1
|
UTSW |
1 |
128,106,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0017:R3hdm1
|
UTSW |
1 |
128,095,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0020:R3hdm1
|
UTSW |
1 |
128,096,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAGGTTTGGCCCATGAATGAAAG -3'
(R):5'- TTCCCAAGTTAGAGGTTCCTGAGAGAG -3'
Sequencing Primer
(F):5'- CCCATGAATGAAAGGCTGACTG -3'
(R):5'- TTCCTGAGAGAGAAAGAACGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation