Incidental Mutation 'PIT4260001:Strn4'
ID |
554500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Strn4
|
Ensembl Gene |
ENSMUSG00000030374 |
Gene Name |
striatin, calmodulin binding protein 4 |
Synonyms |
ZIN, zinedin |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
PIT4260001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16556434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 99
(F99S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019220
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000108495]
|
AlphaFold |
P58404 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019220
AA Change: F99S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019220 Gene: ENSMUSG00000030374 AA Change: F99S
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 damaging
Transcript: ENSMUST00000108495
AA Change: F99S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104135 Gene: ENSMUSG00000030374 AA Change: F99S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184708
|
Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
Cep128 |
A |
G |
12: 91,265,808 (GRCm39) |
V268A |
probably benign |
Het |
Clgn |
T |
C |
8: 84,149,753 (GRCm39) |
M418T |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
Iqsec1 |
T |
A |
6: 90,667,471 (GRCm39) |
D218V |
probably damaging |
Het |
Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
Pira2 |
T |
C |
7: 3,845,173 (GRCm39) |
T362A |
probably benign |
Het |
Pira2 |
C |
T |
7: 3,845,169 (GRCm39) |
S363N |
probably benign |
Het |
Pira2 |
G |
C |
7: 3,845,172 (GRCm39) |
T362S |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
Tcaf2 |
T |
A |
6: 42,619,739 (GRCm39) |
H96L |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
probably 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 |
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 |
R6327:Strn4
|
UTSW |
7 |
16,550,384 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ACTGAGCTCTTTTATGGGTGAC -3'
(R):5'- GCTGCTGCCATTTGAATCCC -3'
Sequencing Primer
(F):5'- GTGACATACCTAGAGACCTTGG -3'
(R):5'- GGACAGTAGAGAAACTTCCTTTGCC -3'
|
Posted On |
2019-06-07 |