Incidental Mutation 'R6952:Ik'
| ID |
543308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ik
|
| Ensembl Gene |
ENSMUSG00000024474 |
| Gene Name |
IK cytokine |
| Synonyms |
MuRED |
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36877709-36890692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36886613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 362
(R362C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007042]
|
| AlphaFold |
Q9Z1M8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007042
AA Change: R362C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474
AA Change: R362C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:RED_N
|
76 |
302 |
1.6e-105 |
PFAM |
|
low complexity region
|
334 |
380 |
N/A |
INTRINSIC |
|
Pfam:RED_C
|
445 |
554 |
1.1e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
Het |
|
| Other mutations in Ik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Ik
|
APN |
18 |
36,889,921 (GRCm39) |
nonsense |
probably null |
|
|
IGL01409:Ik
|
APN |
18 |
36,889,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Ik
|
APN |
18 |
36,884,254 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02282:Ik
|
APN |
18 |
36,878,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02422:Ik
|
APN |
18 |
36,886,313 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03263:Ik
|
APN |
18 |
36,881,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03356:Ik
|
APN |
18 |
36,889,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Ik
|
UTSW |
18 |
36,880,386 (GRCm39) |
unclassified |
probably benign |
|
|
R1778:Ik
|
UTSW |
18 |
36,889,871 (GRCm39) |
unclassified |
probably benign |
|
|
R4060:Ik
|
UTSW |
18 |
36,881,943 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4606:Ik
|
UTSW |
18 |
36,886,608 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4684:Ik
|
UTSW |
18 |
36,885,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Ik
|
UTSW |
18 |
36,886,310 (GRCm39) |
splice site |
probably null |
|
|
R4978:Ik
|
UTSW |
18 |
36,880,468 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5256:Ik
|
UTSW |
18 |
36,881,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5751:Ik
|
UTSW |
18 |
36,886,566 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5966:Ik
|
UTSW |
18 |
36,888,531 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6378:Ik
|
UTSW |
18 |
36,890,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7068:Ik
|
UTSW |
18 |
36,888,518 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7143:Ik
|
UTSW |
18 |
36,884,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Ik
|
UTSW |
18 |
36,881,275 (GRCm39) |
missense |
probably null |
1.00 |
|
R9251:Ik
|
UTSW |
18 |
36,880,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9483:Ik
|
UTSW |
18 |
36,886,635 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9565:Ik
|
UTSW |
18 |
36,886,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9694:Ik
|
UTSW |
18 |
36,877,840 (GRCm39) |
missense |
probably benign |
|
|
R9715:Ik
|
UTSW |
18 |
36,886,566 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1088:Ik
|
UTSW |
18 |
36,877,835 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ik
|
UTSW |
18 |
36,886,568 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGCATGGGTATGTATG -3'
(R):5'- ACCTCATTTAGCTGGCCAG -3'
Sequencing Primer
(F):5'- CCAGCATGGGTATGTATGATTTTAAC -3'
(R):5'- ACCTCATTTAGCTGGCCAGTTATTAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation