Incidental Mutation 'R6327:Strn4'
ID |
510469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn4
|
Ensembl Gene |
ENSMUSG00000030374 |
Gene Name |
striatin, calmodulin binding protein 4 |
Synonyms |
ZIN, zinedin |
MMRRC Submission |
044481-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
R6327 (G1)
|
Quality Score |
94.0077 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 16550384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 36
(S36I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000061390]
[ENSMUST00000108495]
[ENSMUST00000206259]
|
AlphaFold |
P58404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019220
AA Change: S36I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000019220 Gene: ENSMUSG00000030374 AA Change: S36I
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
21 |
60 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
193 |
1.2e-44 |
PFAM |
low complexity region
|
217 |
236 |
N/A |
INTRINSIC |
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
416 |
429 |
N/A |
INTRINSIC |
WD40
|
434 |
473 |
5.72e-9 |
SMART |
WD40
|
487 |
526 |
6.53e-4 |
SMART |
WD40
|
540 |
579 |
6.99e-13 |
SMART |
WD40
|
584 |
626 |
2.38e1 |
SMART |
WD40
|
629 |
672 |
3.55e1 |
SMART |
WD40
|
675 |
714 |
5.34e-9 |
SMART |
WD40
|
717 |
760 |
1.58e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061390
|
SMART Domains |
Protein: ENSMUSP00000059091 Gene: ENSMUSG00000048920
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
258 |
276 |
N/A |
INTRINSIC |
Pfam:LicD
|
334 |
374 |
1.5e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108495
AA Change: S36I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000104135 Gene: ENSMUSG00000030374 AA Change: S36I
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
21 |
60 |
N/A |
INTRINSIC |
Pfam:Striatin
|
64 |
197 |
1.4e-45 |
PFAM |
low complexity region
|
217 |
236 |
N/A |
INTRINSIC |
low complexity region
|
272 |
284 |
N/A |
INTRINSIC |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
low complexity region
|
367 |
382 |
N/A |
INTRINSIC |
low complexity region
|
409 |
422 |
N/A |
INTRINSIC |
WD40
|
427 |
466 |
5.72e-9 |
SMART |
WD40
|
480 |
519 |
6.53e-4 |
SMART |
WD40
|
533 |
572 |
6.99e-13 |
SMART |
WD40
|
577 |
619 |
2.38e1 |
SMART |
WD40
|
622 |
665 |
3.55e1 |
SMART |
WD40
|
668 |
707 |
5.34e-9 |
SMART |
WD40
|
710 |
753 |
1.58e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000184280
AA Change: S27I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205368
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205677
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206259
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
Pom121l2 |
T |
C |
13: 22,166,502 (GRCm39) |
S258P |
probably damaging |
Het |
Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
possibly damaging |
Het |
|
Other mutations in Strn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Strn4
|
APN |
7 |
16,564,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01153:Strn4
|
APN |
7 |
16,571,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01748:Strn4
|
APN |
7 |
16,572,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03227:Strn4
|
APN |
7 |
16,571,639 (GRCm39) |
missense |
possibly damaging |
0.79 |
BB004:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
BB014:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
PIT4260001:Strn4
|
UTSW |
7 |
16,556,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R0948:Strn4
|
UTSW |
7 |
16,571,638 (GRCm39) |
nonsense |
probably null |
|
R1876:Strn4
|
UTSW |
7 |
16,572,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R1918:Strn4
|
UTSW |
7 |
16,567,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R2015:Strn4
|
UTSW |
7 |
16,566,953 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2250:Strn4
|
UTSW |
7 |
16,560,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R3435:Strn4
|
UTSW |
7 |
16,571,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3686:Strn4
|
UTSW |
7 |
16,556,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Strn4
|
UTSW |
7 |
16,556,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R3887:Strn4
|
UTSW |
7 |
16,556,923 (GRCm39) |
unclassified |
probably benign |
|
R4613:Strn4
|
UTSW |
7 |
16,558,088 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4730:Strn4
|
UTSW |
7 |
16,562,719 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5590:Strn4
|
UTSW |
7 |
16,567,799 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5924:Strn4
|
UTSW |
7 |
16,572,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6759:Strn4
|
UTSW |
7 |
16,556,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R6866:Strn4
|
UTSW |
7 |
16,562,710 (GRCm39) |
missense |
probably damaging |
0.97 |
R6976:Strn4
|
UTSW |
7 |
16,564,279 (GRCm39) |
missense |
probably benign |
0.20 |
R7759:Strn4
|
UTSW |
7 |
16,564,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Strn4
|
UTSW |
7 |
16,565,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:Strn4
|
UTSW |
7 |
16,560,556 (GRCm39) |
missense |
probably null |
1.00 |
R8174:Strn4
|
UTSW |
7 |
16,562,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Strn4
|
UTSW |
7 |
16,550,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Strn4
|
UTSW |
7 |
16,550,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8868:Strn4
|
UTSW |
7 |
16,560,570 (GRCm39) |
missense |
probably benign |
0.25 |
R9226:Strn4
|
UTSW |
7 |
16,559,722 (GRCm39) |
intron |
probably benign |
|
R9341:Strn4
|
UTSW |
7 |
16,573,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R9343:Strn4
|
UTSW |
7 |
16,573,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R9718:Strn4
|
UTSW |
7 |
16,572,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGTGTGAAGCTGCGC -3'
(R):5'- TTATTCGCGCAGACCCCATC -3'
Sequencing Primer
(F):5'- GTGAAGCTGCGCGTCCG -3'
(R):5'- ATTGCTCCAAGATGGCGG -3'
|
Posted On |
2018-04-02 |