Incidental Mutation 'R7633:C530008M17Rik'
| ID |
589750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C530008M17Rik
|
| Ensembl Gene |
ENSMUSG00000036377 |
| Gene Name |
RIKEN cDNA C530008M17 gene |
| Synonyms |
|
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76656512-76873554 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76857520 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 576
(E576G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120639]
[ENSMUST00000121160]
[ENSMUST00000163347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000120639
AA Change: E576G
|
| SMART Domains |
Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: E576G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121160
AA Change: E576G
|
| SMART Domains |
Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: E576G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
45 |
172 |
1.8e-41 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163347
AA Change: E576G
|
| SMART Domains |
Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: E576G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4592
|
44 |
173 |
1.7e-45 |
PFAM |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
291 |
N/A |
INTRINSIC |
|
coiled coil region
|
328 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
947 |
1025 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1034 |
1047 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1065 |
1122 |
1.47e-5 |
PROSPERO |
|
low complexity region
|
1268 |
1280 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
C |
A |
11: 58,447,478 (GRCm38) |
M29I |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,372,639 (GRCm38) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,948,584 (GRCm38) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,947,118 (GRCm38) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,729,399 (GRCm38) |
|
probably null |
Het |
| Cd46 |
A |
T |
1: 195,083,619 (GRCm38) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,560,745 (GRCm38) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,792,873 (GRCm38) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,782,112 (GRCm38) |
T392M |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,726,453 (GRCm38) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,338,910 (GRCm38) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,279,698 (GRCm38) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,815,780 (GRCm38) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 59,981,534 (GRCm38) |
D521G |
probably damaging |
Het |
| Fam26d |
G |
A |
10: 34,043,908 (GRCm38) |
T121M |
possibly damaging |
Het |
| Gm14085 |
A |
T |
2: 122,486,680 (GRCm38) |
R7S |
probably null |
Het |
| Gm21731 |
G |
A |
13: 120,240,840 (GRCm38) |
W57* |
probably null |
Het |
| Gm6882 |
A |
G |
7: 21,427,652 (GRCm38) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,474,302 (GRCm38) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,346,662 (GRCm38) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,341,399 (GRCm38) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,671,741 (GRCm38) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,654,253 (GRCm38) |
G232S |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,797,065 (GRCm38) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,583 (GRCm38) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,158,622 (GRCm38) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,109,453 (GRCm38) |
S3W |
probably damaging |
Het |
| Olfr1287 |
A |
G |
2: 111,449,622 (GRCm38) |
I161V |
probably benign |
Het |
| Olfr284 |
A |
G |
15: 98,340,086 (GRCm38) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,956,151 (GRCm38) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,552,436 (GRCm38) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,980,654 (GRCm38) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,456,629 (GRCm38) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,248,477 (GRCm38) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,984,140 (GRCm38) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 91,118,042 (GRCm38) |
|
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,145,755 (GRCm38) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,586,673 (GRCm38) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 69,018,067 (GRCm38) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 60,126,180 (GRCm38) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,367,838 (GRCm38) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,197,099 (GRCm38) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,603,428 (GRCm38) |
T482I |
probably damaging |
Het |
| Tmc6 |
G |
T |
11: 117,769,220 (GRCm38) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 69,037,926 (GRCm38) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,591,006 (GRCm38) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,393,485 (GRCm38) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,861,147 (GRCm38) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,658,962 (GRCm38) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,843,023 (GRCm38) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,425,089 (GRCm38) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,318,996 (GRCm38) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,115,824 (GRCm38) |
F240L |
possibly damaging |
Het |
|
| Other mutations in C530008M17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:C530008M17Rik
|
APN |
5 |
76,866,056 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00660:C530008M17Rik
|
APN |
5 |
76,854,933 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL00924:C530008M17Rik
|
APN |
5 |
76,858,986 (GRCm38) |
missense |
unknown |
|
|
IGL01025:C530008M17Rik
|
APN |
5 |
76,658,074 (GRCm38) |
intron |
probably benign |
|
|
IGL01122:C530008M17Rik
|
APN |
5 |
76,870,675 (GRCm38) |
makesense |
probably null |
|
|
IGL01393:C530008M17Rik
|
APN |
5 |
76,858,971 (GRCm38) |
missense |
unknown |
|
|
IGL01526:C530008M17Rik
|
APN |
5 |
76,857,631 (GRCm38) |
missense |
unknown |
|
|
IGL01986:C530008M17Rik
|
APN |
5 |
76,858,610 (GRCm38) |
missense |
unknown |
|
|
IGL02009:C530008M17Rik
|
APN |
5 |
76,848,970 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02724:C530008M17Rik
|
APN |
5 |
76,858,459 (GRCm38) |
missense |
unknown |
|
|
IGL02869:C530008M17Rik
|
APN |
5 |
76,859,043 (GRCm38) |
missense |
unknown |
|
|
IGL03030:C530008M17Rik
|
APN |
5 |
76,857,616 (GRCm38) |
missense |
unknown |
|
|
IGL03150:C530008M17Rik
|
APN |
5 |
76,867,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
LCD18:C530008M17Rik
|
UTSW |
5 |
76,658,742 (GRCm38) |
intron |
probably benign |
|
|
R0975:C530008M17Rik
|
UTSW |
5 |
76,856,318 (GRCm38) |
splice site |
probably benign |
|
|
R1329:C530008M17Rik
|
UTSW |
5 |
76,657,932 (GRCm38) |
intron |
probably benign |
|
|
R1439:C530008M17Rik
|
UTSW |
5 |
76,840,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1750:C530008M17Rik
|
UTSW |
5 |
76,857,675 (GRCm38) |
missense |
unknown |
|
|
R1773:C530008M17Rik
|
UTSW |
5 |
76,867,205 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1885:C530008M17Rik
|
UTSW |
5 |
76,856,742 (GRCm38) |
missense |
unknown |
|
|
R1924:C530008M17Rik
|
UTSW |
5 |
76,858,623 (GRCm38) |
missense |
unknown |
|
|
R2483:C530008M17Rik
|
UTSW |
5 |
76,856,409 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3840:C530008M17Rik
|
UTSW |
5 |
76,859,011 (GRCm38) |
missense |
unknown |
|
|
R3841:C530008M17Rik
|
UTSW |
5 |
76,859,011 (GRCm38) |
missense |
unknown |
|
|
R3874:C530008M17Rik
|
UTSW |
5 |
76,840,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3883:C530008M17Rik
|
UTSW |
5 |
76,856,574 (GRCm38) |
missense |
unknown |
|
|
R4033:C530008M17Rik
|
UTSW |
5 |
76,858,465 (GRCm38) |
missense |
unknown |
|
|
R4401:C530008M17Rik
|
UTSW |
5 |
76,848,916 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4749:C530008M17Rik
|
UTSW |
5 |
76,858,834 (GRCm38) |
missense |
unknown |
|
|
R4884:C530008M17Rik
|
UTSW |
5 |
76,848,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4980:C530008M17Rik
|
UTSW |
5 |
76,857,574 (GRCm38) |
missense |
unknown |
|
|
R5010:C530008M17Rik
|
UTSW |
5 |
76,657,834 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5086:C530008M17Rik
|
UTSW |
5 |
76,857,124 (GRCm38) |
missense |
unknown |
|
|
R5468:C530008M17Rik
|
UTSW |
5 |
76,840,763 (GRCm38) |
intron |
probably benign |
|
|
R5786:C530008M17Rik
|
UTSW |
5 |
76,866,196 (GRCm38) |
splice site |
probably null |
|
|
R5813:C530008M17Rik
|
UTSW |
5 |
76,858,428 (GRCm38) |
missense |
unknown |
|
|
R5866:C530008M17Rik
|
UTSW |
5 |
76,857,537 (GRCm38) |
missense |
unknown |
|
|
R5928:C530008M17Rik
|
UTSW |
5 |
76,841,734 (GRCm38) |
intron |
probably benign |
|
|
R6273:C530008M17Rik
|
UTSW |
5 |
76,857,721 (GRCm38) |
missense |
unknown |
|
|
R6577:C530008M17Rik
|
UTSW |
5 |
76,866,100 (GRCm38) |
unclassified |
probably benign |
|
|
R6838:C530008M17Rik
|
UTSW |
5 |
76,858,209 (GRCm38) |
missense |
unknown |
|
|
R6849:C530008M17Rik
|
UTSW |
5 |
76,857,157 (GRCm38) |
missense |
unknown |
|
|
R6849:C530008M17Rik
|
UTSW |
5 |
76,857,010 (GRCm38) |
missense |
unknown |
|
|
R6914:C530008M17Rik
|
UTSW |
5 |
76,857,007 (GRCm38) |
missense |
unknown |
|
|
R7017:C530008M17Rik
|
UTSW |
5 |
76,856,948 (GRCm38) |
small deletion |
probably benign |
|
|
R7094:C530008M17Rik
|
UTSW |
5 |
76,859,032 (GRCm38) |
missense |
unknown |
|
|
R7367:C530008M17Rik
|
UTSW |
5 |
76,856,602 (GRCm38) |
missense |
unknown |
|
|
R7394:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R7436:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R7443:C530008M17Rik
|
UTSW |
5 |
76,856,638 (GRCm38) |
missense |
unknown |
|
|
R7500:C530008M17Rik
|
UTSW |
5 |
76,658,058 (GRCm38) |
missense |
unknown |
|
|
R7566:C530008M17Rik
|
UTSW |
5 |
76,866,275 (GRCm38) |
splice site |
probably null |
|
|
R7728:C530008M17Rik
|
UTSW |
5 |
76,857,469 (GRCm38) |
missense |
unknown |
|
|
R7930:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R7985:C530008M17Rik
|
UTSW |
5 |
76,658,050 (GRCm38) |
missense |
unknown |
|
|
R8154:C530008M17Rik
|
UTSW |
5 |
76,841,797 (GRCm38) |
missense |
unknown |
|
|
R8463:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R8547:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R8805:C530008M17Rik
|
UTSW |
5 |
76,858,642 (GRCm38) |
missense |
unknown |
|
|
R8819:C530008M17Rik
|
UTSW |
5 |
76,856,946 (GRCm38) |
small deletion |
probably benign |
|
|
R8888:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R9256:C530008M17Rik
|
UTSW |
5 |
76,840,910 (GRCm38) |
missense |
unknown |
|
|
R9358:C530008M17Rik
|
UTSW |
5 |
76,854,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9417:C530008M17Rik
|
UTSW |
5 |
76,856,954 (GRCm38) |
small deletion |
probably benign |
|
|
R9618:C530008M17Rik
|
UTSW |
5 |
76,856,770 (GRCm38) |
missense |
unknown |
|
|
R9628:C530008M17Rik
|
UTSW |
5 |
76,857,076 (GRCm38) |
missense |
unknown |
|
|
R9639:C530008M17Rik
|
UTSW |
5 |
76,858,150 (GRCm38) |
missense |
unknown |
|
|
R9762:C530008M17Rik
|
UTSW |
5 |
76,858,708 (GRCm38) |
missense |
unknown |
|
|
R9785:C530008M17Rik
|
UTSW |
5 |
76,867,181 (GRCm38) |
missense |
unknown |
|
|
Z1176:C530008M17Rik
|
UTSW |
5 |
76,857,246 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACGGACGATGCTGACCAG -3'
(R):5'- ACCAAAATGGCCGTGTGTG -3'
Sequencing Primer
(F):5'- CGGGACCTTGAGAAGCCAG -3'
(R):5'- TTACCGGGCTCAGGTTGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation