Incidental Mutation 'R6759:Strn4'
| ID |
531141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Strn4
|
| Ensembl Gene |
ENSMUSG00000030374 |
| Gene Name |
striatin, calmodulin binding protein 4 |
| Synonyms |
ZIN, zinedin |
| MMRRC Submission |
044875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
R6759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16549814-16574856 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16556978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 145
(E145V)
|
| 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: E145V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374
AA Change: E145V
| 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: E145V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374
AA Change: E145V
| 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: E136V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184708
|
| Meta Mutation Damage Score |
0.5571 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,692 (GRCm39) |
S841G |
probably benign |
Het |
| 4933427I04Rik |
G |
T |
4: 123,753,879 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,921,399 (GRCm39) |
T199A |
probably damaging |
Het |
| Acnat2 |
C |
A |
4: 49,380,254 (GRCm39) |
V375L |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,677,320 (GRCm39) |
T434A |
possibly damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,156,088 (GRCm39) |
T63A |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,391,103 (GRCm39) |
S97P |
probably damaging |
Het |
| Apip |
T |
C |
2: 102,922,191 (GRCm39) |
S186P |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,049 (GRCm39) |
K3177R |
probably benign |
Het |
| Atm |
C |
T |
9: 53,429,859 (GRCm39) |
W392* |
probably null |
Het |
| Atp8b1 |
T |
A |
18: 64,679,161 (GRCm39) |
R773S |
probably benign |
Het |
| Bicdl2 |
T |
A |
17: 23,885,718 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,042,234 (GRCm39) |
T2740I |
possibly damaging |
Het |
| Cacng3 |
G |
A |
7: 122,361,547 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
G |
T |
3: 144,455,450 (GRCm39) |
L448M |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,166,401 (GRCm39) |
I94M |
possibly damaging |
Het |
| Cnot3 |
G |
T |
7: 3,654,918 (GRCm39) |
V124F |
probably damaging |
Het |
| Cyp4a30b |
C |
T |
4: 115,318,571 (GRCm39) |
A426V |
probably benign |
Het |
| Dact1 |
T |
A |
12: 71,364,911 (GRCm39) |
L564* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,882,266 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
A |
14: 68,033,445 (GRCm39) |
T975S |
probably benign |
Het |
| Dock8 |
C |
A |
19: 25,104,848 (GRCm39) |
H739Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 4,034,613 (GRCm39) |
N186Y |
probably damaging |
Het |
| Enam |
G |
A |
5: 88,649,550 (GRCm39) |
G278D |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,578,256 (GRCm39) |
D181G |
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,828,926 (GRCm39) |
S156* |
probably null |
Het |
| Jam3 |
G |
C |
9: 27,013,276 (GRCm39) |
T98S |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,184 (GRCm39) |
I1435N |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,932,383 (GRCm39) |
A157T |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,337,148 (GRCm39) |
V1361E |
probably benign |
Het |
| Nobox |
A |
T |
6: 43,284,538 (GRCm39) |
L36Q |
possibly damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,100 (GRCm39) |
M198L |
probably benign |
Het |
| Or51a10 |
A |
G |
7: 103,699,334 (GRCm39) |
S76P |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,857,947 (GRCm39) |
V860I |
probably benign |
Het |
| Pim3 |
T |
A |
15: 88,747,296 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
T |
5: 103,713,121 (GRCm39) |
N1748I |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,145 (GRCm39) |
T356A |
possibly damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,293,559 (GRCm39) |
R310* |
probably null |
Het |
| Rassf5 |
C |
T |
1: 131,109,988 (GRCm39) |
V190I |
probably benign |
Het |
| Rgl1 |
T |
G |
1: 152,409,281 (GRCm39) |
Q481P |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,276,063 (GRCm39) |
T537A |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,063,699 (GRCm39) |
S395R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tex21 |
T |
A |
12: 76,251,086 (GRCm39) |
|
probably null |
Het |
| Usp37 |
G |
A |
1: 74,534,908 (GRCm39) |
R13* |
probably null |
Het |
| Uty |
G |
T |
Y: 1,174,735 (GRCm39) |
L222I |
probably damaging |
Homo |
| Wwp2 |
A |
G |
8: 108,267,314 (GRCm39) |
T309A |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,395,510 (GRCm39) |
R359H |
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 |
|
R6327:Strn4
|
UTSW |
7 |
16,550,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTGGGAAGGAACTGAGACTTC -3'
(R):5'- CCATCCATCATGTCCTTGGGAG -3'
Sequencing Primer
(F):5'- CTGAGACTTCAGGAGGAGGG -3'
(R):5'- CCTTGGGAGGACAGCAAGATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation