Incidental Mutation 'R3686:Strn4'
| ID |
269523 |
| 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: 0.881)
|
| Stock # |
R3686 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16556506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 123
(Y123C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000108495]
|
| AlphaFold |
P58404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019220
AA Change: Y123C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: Y123C
| 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: Y123C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: Y123C
| 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 |
noncoding transcript
Transcript: ENSMUST00000137885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138070
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184280
AA Change: Y114C
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184708
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb16 |
T |
A |
11: 102,159,885 (GRCm39) |
D79E |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
| B3galnt2 |
G |
A |
13: 14,150,220 (GRCm39) |
|
probably null |
Het |
| Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,349,916 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,422,160 (GRCm39) |
S95P |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,494,748 (GRCm39) |
E919K |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
| Hsp90ab1 |
A |
G |
17: 45,880,214 (GRCm39) |
Y110H |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,890,425 (GRCm39) |
V1258A |
probably damaging |
Het |
| Naa11 |
A |
T |
5: 97,539,648 (GRCm39) |
V170E |
probably benign |
Het |
| Nmd3 |
C |
T |
3: 69,654,095 (GRCm39) |
R413C |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,914 (GRCm39) |
V107F |
probably benign |
Het |
| Or56b2 |
A |
G |
7: 104,337,599 (GRCm39) |
I126V |
probably benign |
Het |
| Pgm3 |
G |
T |
9: 86,441,563 (GRCm39) |
P345T |
probably benign |
Het |
| Ptpn14 |
C |
A |
1: 189,583,596 (GRCm39) |
D814E |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,021,912 (GRCm39) |
V624E |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,361 (GRCm39) |
K212E |
probably benign |
Het |
| Shisa2 |
T |
A |
14: 59,867,228 (GRCm39) |
L160Q |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,177 (GRCm39) |
T762A |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,471,959 (GRCm39) |
K534E |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,344,185 (GRCm39) |
D633V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,333 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,054,920 (GRCm39) |
N921K |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,644,397 (GRCm39) |
V671A |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,339 (GRCm39) |
T118S |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,716,580 (GRCm39) |
I517N |
probably damaging |
Het |
| Zfp830 |
G |
A |
11: 82,656,188 (GRCm39) |
E331K |
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 |
|
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'- GAACCCTGACATCGATGTAGG -3'
(R):5'- TGCAGAACTGGAGCACATAG -3'
Sequencing Primer
(F):5'- CCTGACATCGATGTAGGGGAGG -3'
(R):5'- CACATAGTAGGTGTGCTCAAGCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation