Incidental Mutation 'RF039:Strn'
ID |
604735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn
|
Ensembl Gene |
ENSMUSG00000024077 |
Gene Name |
striatin, calmodulin binding protein |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
RF039 (G1)
|
Quality Score |
169.468 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
78957327-79043990 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TTACCCC to TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC
at 78984707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024881]
[ENSMUST00000145910]
|
AlphaFold |
O55106 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024881
|
SMART Domains |
Protein: ENSMUSP00000024881 Gene: ENSMUSG00000024077
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
low complexity region
|
178 |
195 |
N/A |
INTRINSIC |
low complexity region
|
223 |
231 |
N/A |
INTRINSIC |
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
WD40
|
299 |
338 |
6.04e-8 |
SMART |
WD40
|
352 |
391 |
2.42e-7 |
SMART |
WD40
|
405 |
444 |
1.21e-7 |
SMART |
WD40
|
493 |
539 |
1.28e1 |
SMART |
WD40
|
542 |
581 |
4.4e-10 |
SMART |
WD40
|
584 |
627 |
2.48e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145480
|
SMART Domains |
Protein: ENSMUSP00000117663 Gene: ENSMUSG00000024077
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
76 |
N/A |
INTRINSIC |
low complexity region
|
153 |
171 |
N/A |
INTRINSIC |
low complexity region
|
227 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000145910
|
SMART Domains |
Protein: ENSMUSP00000120830 Gene: ENSMUSG00000024077
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
45 |
N/A |
INTRINSIC |
Pfam:Striatin
|
48 |
177 |
4.2e-50 |
PFAM |
low complexity region
|
238 |
254 |
N/A |
INTRINSIC |
low complexity region
|
331 |
348 |
N/A |
INTRINSIC |
low complexity region
|
376 |
384 |
N/A |
INTRINSIC |
low complexity region
|
412 |
429 |
N/A |
INTRINSIC |
WD40
|
452 |
491 |
6.04e-8 |
SMART |
WD40
|
505 |
544 |
2.42e-7 |
SMART |
WD40
|
558 |
597 |
1.21e-7 |
SMART |
WD40
|
646 |
692 |
1.28e1 |
SMART |
WD40
|
695 |
734 |
4.4e-10 |
SMART |
WD40
|
737 |
780 |
2.48e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit increased blood pressure and circulating aldosterone when fed a liberal salt diet. No mice could be generated that were homozygous for the allele. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTTCATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,971 (GRCm39) |
|
probably benign |
Het |
Camkv |
CGCTGCTGC |
CGC |
9: 107,825,059 (GRCm39) |
|
probably benign |
Het |
Cckbr |
GCA |
G |
7: 105,083,893 (GRCm39) |
|
probably null |
Het |
Cd276 |
G |
A |
9: 58,442,787 (GRCm39) |
R223C |
probably damaging |
Het |
Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
Dcdc2b |
GCTGC |
GCTGCCAGGTCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Eml6 |
CTAAAAAAACAAAACA |
C |
11: 29,702,551 (GRCm39) |
|
probably benign |
Het |
Eps8 |
C |
CTCAT |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
Exd2 |
CACAGCCA |
C |
12: 80,522,715 (GRCm39) |
|
probably null |
Het |
Gab3 |
TTC |
TTCGTC |
X: 74,043,610 (GRCm39) |
|
probably benign |
Het |
Gm10718 |
ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT |
ATTTTCAGT |
9: 3,024,385 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,122 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
GTG |
GTGTTTTTG |
19: 11,489,146 (GRCm39) |
|
probably benign |
Het |
Igf1r |
GG |
GGTGATGGAGCTTG |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
Il2 |
GG |
GGGCTTGTTGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
Kif12 |
GGC |
GGCCTCCAACCGGCCAGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
L1td1 |
AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG |
AGGAGGAGGAG |
4: 98,625,026 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
14: 75,184,989 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
ACCAATCACCAAC |
ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC |
11: 58,281,057 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
Map1a |
CCAGC |
CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CCG |
CCGCCGGCG |
X: 98,864,978 (GRCm39) |
|
probably benign |
Het |
Nefh |
AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,007 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
G |
A |
2: 111,279,896 (GRCm39) |
G137D |
not run |
Het |
Pdcd11 |
GGAGGAGA |
G |
19: 47,101,894 (GRCm39) |
|
probably null |
Het |
Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTTAACATC |
7: 16,695,369 (GRCm39) |
|
probably benign |
Het |
Prp2 |
AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,464 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
ATTC |
ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TC |
TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
GCGATCCTCCCCAGTCCCGCAAGGCCA |
GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA |
5: 77,164,249 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
Tent4a |
GACA |
G |
13: 69,681,973 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGAAG |
17: 48,097,020 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGTAG |
17: 48,097,035 (GRCm39) |
|
probably null |
Het |
Thbs1 |
TGACCTTAG |
TG |
2: 117,953,346 (GRCm39) |
|
probably benign |
Het |
Tmprss13 |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
9: 45,239,762 (GRCm39) |
|
probably benign |
Het |
Triobp |
CCCCAGGACTCCCTGTGCCCAACGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
C |
T |
4: 25,280,628 (GRCm39) |
R73Q |
possibly damaging |
Het |
Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
Zc3h4 |
TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA |
TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA |
7: 16,163,543 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Strn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00722:Strn
|
APN |
17 |
78,999,849 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02165:Strn
|
APN |
17 |
78,995,049 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Strn
|
APN |
17 |
78,991,780 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:Strn
|
APN |
17 |
78,991,722 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03306:Strn
|
APN |
17 |
78,974,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0053:Strn
|
UTSW |
17 |
78,964,363 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0165:Strn
|
UTSW |
17 |
78,984,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1156:Strn
|
UTSW |
17 |
78,964,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R1191:Strn
|
UTSW |
17 |
78,999,855 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1256:Strn
|
UTSW |
17 |
78,972,046 (GRCm39) |
critical splice donor site |
probably null |
|
R1700:Strn
|
UTSW |
17 |
78,999,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R1878:Strn
|
UTSW |
17 |
78,984,755 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1897:Strn
|
UTSW |
17 |
78,990,271 (GRCm39) |
missense |
probably benign |
0.01 |
R1912:Strn
|
UTSW |
17 |
78,991,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R1975:Strn
|
UTSW |
17 |
78,999,928 (GRCm39) |
splice site |
probably null |
|
R2357:Strn
|
UTSW |
17 |
78,963,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Strn
|
UTSW |
17 |
78,990,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R3693:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3694:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3695:Strn
|
UTSW |
17 |
78,964,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3941:Strn
|
UTSW |
17 |
78,965,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R4431:Strn
|
UTSW |
17 |
79,043,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4678:Strn
|
UTSW |
17 |
78,984,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Strn
|
UTSW |
17 |
78,965,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R4947:Strn
|
UTSW |
17 |
78,969,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R5470:Strn
|
UTSW |
17 |
78,964,374 (GRCm39) |
missense |
probably benign |
0.01 |
R5710:Strn
|
UTSW |
17 |
78,995,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Strn
|
UTSW |
17 |
78,977,276 (GRCm39) |
missense |
probably damaging |
0.96 |
R6173:Strn
|
UTSW |
17 |
79,008,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R6800:Strn
|
UTSW |
17 |
78,977,787 (GRCm39) |
intron |
probably benign |
|
R6846:Strn
|
UTSW |
17 |
79,043,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R7716:Strn
|
UTSW |
17 |
78,963,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R7746:Strn
|
UTSW |
17 |
78,984,801 (GRCm39) |
missense |
probably benign |
0.11 |
R7950:Strn
|
UTSW |
17 |
78,977,852 (GRCm39) |
missense |
|
|
R7997:Strn
|
UTSW |
17 |
78,991,672 (GRCm39) |
missense |
probably benign |
0.01 |
R8344:Strn
|
UTSW |
17 |
78,980,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R9074:Strn
|
UTSW |
17 |
79,043,790 (GRCm39) |
missense |
probably benign |
0.00 |
R9523:Strn
|
UTSW |
17 |
78,967,575 (GRCm39) |
missense |
probably benign |
0.17 |
R9538:Strn
|
UTSW |
17 |
78,972,219 (GRCm39) |
missense |
possibly damaging |
0.68 |
RF006:Strn
|
UTSW |
17 |
78,984,700 (GRCm39) |
frame shift |
probably null |
|
RF008:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
RF017:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
RF018:Strn
|
UTSW |
17 |
78,984,712 (GRCm39) |
frame shift |
probably null |
|
RF031:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
RF035:Strn
|
UTSW |
17 |
78,984,714 (GRCm39) |
frame shift |
probably null |
|
RF036:Strn
|
UTSW |
17 |
78,984,706 (GRCm39) |
frame shift |
probably null |
|
RF038:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
RF044:Strn
|
UTSW |
17 |
78,984,717 (GRCm39) |
frame shift |
probably null |
|
RF045:Strn
|
UTSW |
17 |
78,984,711 (GRCm39) |
frame shift |
probably null |
|
RF047:Strn
|
UTSW |
17 |
78,984,703 (GRCm39) |
frame shift |
probably null |
|
RF047:Strn
|
UTSW |
17 |
78,984,699 (GRCm39) |
frame shift |
probably null |
|
RF048:Strn
|
UTSW |
17 |
78,984,716 (GRCm39) |
frame shift |
probably null |
|
X0022:Strn
|
UTSW |
17 |
79,008,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTACACAGCTTCCTTATGGC -3'
(R):5'- ACAATGTGTCTGGCTGAGTTAG -3'
Sequencing Primer
(F):5'- CTCTCGCCCAGCCTAGACAG -3'
(R):5'- GCCAACACTTAAGTTCTTTAAAAACG -3'
|
Posted On |
2019-12-04 |