Incidental Mutation 'R6787:Sik2'
| ID |
532441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sik2
|
| Ensembl Gene |
ENSMUSG00000037112 |
| Gene Name |
salt inducible kinase 2 |
| Synonyms |
G630080D20Rik, Snf1lk2 |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.655)
|
| Stock # |
R6787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50804101-50920373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50909834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 73
(M73K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041375]
[ENSMUST00000176491]
[ENSMUST00000176663]
[ENSMUST00000176824]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041375
AA Change: M73K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000038761
Gene: ENSMUSG00000037112
AA Change: M73K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176491
AA Change: M73K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000134954
Gene: ENSMUSG00000037112
AA Change: M73K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176663
AA Change: M73K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135376
Gene: ENSMUSG00000037112
AA Change: M73K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176824
AA Change: M73K
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134936
Gene: ENSMUSG00000037112
AA Change: M73K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
271 |
4.63e-101 |
SMART |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
842 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1371 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit darkened hair color in an agouti background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,022,089 (GRCm39) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,363,902 (GRCm39) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,458,714 (GRCm39) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,882,213 (GRCm39) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
possibly damaging |
Het |
|
| Other mutations in Sik2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Sik2
|
APN |
9 |
50,818,763 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01552:Sik2
|
APN |
9 |
50,828,822 (GRCm39) |
splice site |
probably benign |
|
|
IGL02175:Sik2
|
APN |
9 |
50,806,909 (GRCm39) |
nonsense |
probably null |
|
|
IGL02355:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02362:Sik2
|
APN |
9 |
50,828,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Sik2
|
APN |
9 |
50,807,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0066:Sik2
|
UTSW |
9 |
50,909,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0109:Sik2
|
UTSW |
9 |
50,810,775 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0416:Sik2
|
UTSW |
9 |
50,906,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Sik2
|
UTSW |
9 |
50,810,045 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0714:Sik2
|
UTSW |
9 |
50,818,736 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1472:Sik2
|
UTSW |
9 |
50,920,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Sik2
|
UTSW |
9 |
50,906,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Sik2
|
UTSW |
9 |
50,906,974 (GRCm39) |
splice site |
probably benign |
|
|
R2032:Sik2
|
UTSW |
9 |
50,906,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Sik2
|
UTSW |
9 |
50,818,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2853:Sik2
|
UTSW |
9 |
50,809,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Sik2
|
UTSW |
9 |
50,846,685 (GRCm39) |
intron |
probably benign |
|
|
R4567:Sik2
|
UTSW |
9 |
50,909,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Sik2
|
UTSW |
9 |
50,906,891 (GRCm39) |
intron |
probably benign |
|
|
R5176:Sik2
|
UTSW |
9 |
50,810,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5640:Sik2
|
UTSW |
9 |
50,826,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5682:Sik2
|
UTSW |
9 |
50,828,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Sik2
|
UTSW |
9 |
50,807,145 (GRCm39) |
missense |
probably benign |
|
|
R5935:Sik2
|
UTSW |
9 |
50,828,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Sik2
|
UTSW |
9 |
50,806,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6664:Sik2
|
UTSW |
9 |
50,846,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Sik2
|
UTSW |
9 |
50,808,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7057:Sik2
|
UTSW |
9 |
50,909,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Sik2
|
UTSW |
9 |
50,818,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Sik2
|
UTSW |
9 |
50,828,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7892:Sik2
|
UTSW |
9 |
50,920,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8252:Sik2
|
UTSW |
9 |
50,828,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8893:Sik2
|
UTSW |
9 |
50,810,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Sik2
|
UTSW |
9 |
50,806,647 (GRCm39) |
missense |
probably benign |
|
|
R9747:Sik2
|
UTSW |
9 |
50,810,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9753:Sik2
|
UTSW |
9 |
50,807,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAAGTTTAGGCACAACTGC -3'
(R):5'- GGTGCCATCTCAGATATCGTTTC -3'
Sequencing Primer
(F):5'- AAGTAGCTTCCCAGTTTCATTTTTAC -3'
(R):5'- TCCTAAGTCTTACCTGGAGACGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation