Incidental Mutation 'R9341:Strn4'
| ID |
707490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn4
|
| Ensembl Gene |
ENSMUSG00000030374 |
| Gene Name |
striatin, calmodulin binding protein 4 |
| Synonyms |
ZIN, zinedin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.836)
|
| Stock # |
R9341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16573827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 759
(F759L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019220]
[ENSMUST00000086104]
[ENSMUST00000108495]
[ENSMUST00000168093]
[ENSMUST00000185011]
|
| AlphaFold |
P58404 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019220
AA Change: F759L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: F759L
| 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: ENSMUST00000086104
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108495
AA Change: F752L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: F752L
| 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 |
probably benign
Transcript: ENSMUST00000168093
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185011
|
| SMART Domains |
Protein: ENSMUSP00000139290
Gene: ENSMUSG00000030374
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat2 |
T |
C |
17: 13,167,538 (GRCm39) |
N166S |
probably damaging |
Het |
| Agap2 |
G |
C |
10: 126,927,559 (GRCm39) |
G1147R |
unknown |
Het |
| Atp8b2 |
A |
T |
3: 89,855,811 (GRCm39) |
F446I |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,704,315 (GRCm39) |
M822K |
possibly damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,447 (GRCm39) |
E745G |
probably damaging |
Het |
| Clec4a2 |
G |
T |
6: 123,104,955 (GRCm39) |
A82S |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,704,909 (GRCm39) |
N749S |
unknown |
Het |
| Col9a2 |
T |
A |
4: 120,911,483 (GRCm39) |
M608K |
probably benign |
Het |
| Cope |
T |
C |
8: 70,761,228 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,397,730 (GRCm39) |
|
probably null |
Het |
| Dpys |
T |
C |
15: 39,656,748 (GRCm39) |
T440A |
possibly damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,737,551 (GRCm39) |
T152I |
probably damaging |
Het |
| Gm16503 |
A |
T |
4: 147,625,508 (GRCm39) |
M1L |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,717,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,133,903 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,618 (GRCm39) |
D345G |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,975,951 (GRCm39) |
L368P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,788,705 (GRCm39) |
S1371T |
probably benign |
Het |
| Mllt3 |
T |
A |
4: 87,792,168 (GRCm39) |
E109D |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,134,633 (GRCm39) |
D479N |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,735,324 (GRCm39) |
R195* |
probably null |
Het |
| Pcdhga10 |
G |
T |
18: 37,880,532 (GRCm39) |
A98S |
probably benign |
Het |
| Pde8a |
A |
T |
7: 80,950,427 (GRCm39) |
Q221H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,786,399 (GRCm39) |
H2335R |
|
Het |
| Pkd1l1 |
T |
A |
11: 8,911,305 (GRCm39) |
D324V |
|
Het |
| Pou2f2 |
G |
A |
7: 24,794,277 (GRCm39) |
T363I |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,988 (GRCm39) |
I488V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,441 (GRCm39) |
|
probably null |
Het |
| Rbm7 |
T |
C |
9: 48,400,969 (GRCm39) |
D253G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,972,116 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
G |
T |
13: 51,573,553 (GRCm39) |
V245L |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,219 (GRCm39) |
D2755G |
probably benign |
Het |
| Scgn |
T |
A |
13: 24,173,829 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,966,802 (GRCm39) |
K715E |
probably damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,231 (GRCm39) |
E300G |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,190 (GRCm39) |
N394I |
probably damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,193,066 (GRCm39) |
I269F |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,678,737 (GRCm39) |
D606G |
possibly damaging |
Het |
| Trh |
A |
G |
6: 92,220,823 (GRCm39) |
I13T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,217,701 (GRCm39) |
I1169T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,153,615 (GRCm39) |
D486N |
probably damaging |
Het |
| Wars2 |
T |
C |
3: 99,094,846 (GRCm39) |
L47P |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,695,576 (GRCm39) |
S425G |
probably damaging |
Het |
| Zdhhc16 |
T |
C |
19: 41,926,549 (GRCm39) |
S111P |
probably benign |
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 |
|
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 |
|
|
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'- AAACAACCTCCTTTGTTCCACG -3'
(R):5'- CGGGAAGCCTCATTTATCCCAC -3'
Sequencing Primer
(F):5'- TTGTTCCACGCCTGCGC -3'
(R):5'- CCAACTGACAGGCAAGTGGATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation