Incidental Mutation 'R8404:Brsk1'
| ID |
652313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brsk1
|
| Ensembl Gene |
ENSMUSG00000035390 |
| Gene Name |
BR serine/threonine kinase 1 |
| Synonyms |
SAD-B, LOC381979 |
| MMRRC Submission |
067764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4693635-4718996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4709695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 441
(S441P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048248]
[ENSMUST00000086364]
[ENSMUST00000120836]
[ENSMUST00000205666]
[ENSMUST00000206024]
|
| AlphaFold |
Q5RJI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048248
AA Change: S441P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: S441P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
S_TKc
|
34 |
285 |
6.75e-103 |
SMART |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086364
|
| SMART Domains |
Protein: ENSMUSP00000083550
Gene: ENSMUSG00000046456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
4 |
114 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120836
AA Change: S366P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
AA Change: S366P
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
210 |
1.19e-71 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205666
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206024
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,668,460 (GRCm39) |
Y337C |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,066,986 (GRCm39) |
R33S |
possibly damaging |
Het |
| Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,850,606 (GRCm39) |
D1693G |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Gm6899 |
C |
G |
11: 26,543,630 (GRCm39) |
R66G |
unknown |
Het |
| Hira |
T |
G |
16: 18,770,912 (GRCm39) |
S850A |
possibly damaging |
Het |
| Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
| Maml3 |
T |
C |
3: 51,598,077 (GRCm39) |
Y869C |
probably damaging |
Het |
| Nap1l1 |
T |
A |
10: 111,317,162 (GRCm39) |
M1K |
probably null |
Het |
| Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,134 (GRCm39) |
Y134* |
probably null |
Het |
| Pam |
T |
C |
1: 97,823,358 (GRCm39) |
Q271R |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,093,231 (GRCm39) |
V503A |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pinx1 |
T |
A |
14: 64,157,063 (GRCm39) |
V330D |
unknown |
Het |
| Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,397,302 (GRCm39) |
D197G |
probably damaging |
Het |
| Prmt8 |
C |
T |
6: 127,666,825 (GRCm39) |
C383Y |
possibly damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
| Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
| Rpp30 |
T |
C |
19: 36,066,603 (GRCm39) |
L112P |
probably damaging |
Het |
| Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
| Slc22a28 |
A |
T |
19: 8,108,793 (GRCm39) |
C116* |
probably null |
Het |
| Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
| Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,751,942 (GRCm39) |
T92A |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,396,594 (GRCm39) |
C4321S |
unknown |
Het |
| Zbtb32 |
G |
A |
7: 30,291,035 (GRCm39) |
P87S |
possibly damaging |
Het |
| Zer1 |
C |
T |
2: 29,995,035 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
probably benign |
Het |
|
| Other mutations in Brsk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Brsk1
|
APN |
7 |
4,707,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01733:Brsk1
|
APN |
7 |
4,709,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03019:Brsk1
|
APN |
7 |
4,713,496 (GRCm39) |
intron |
probably benign |
|
|
IGL03088:Brsk1
|
APN |
7 |
4,713,453 (GRCm39) |
intron |
probably benign |
|
|
R0612:Brsk1
|
UTSW |
7 |
4,710,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0891:Brsk1
|
UTSW |
7 |
4,707,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1455:Brsk1
|
UTSW |
7 |
4,707,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Brsk1
|
UTSW |
7 |
4,707,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2884:Brsk1
|
UTSW |
7 |
4,694,122 (GRCm39) |
unclassified |
probably benign |
|
|
R2939:Brsk1
|
UTSW |
7 |
4,711,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4392:Brsk1
|
UTSW |
7 |
4,701,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4662:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4756:Brsk1
|
UTSW |
7 |
4,711,866 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4788:Brsk1
|
UTSW |
7 |
4,701,954 (GRCm39) |
splice site |
probably null |
|
|
R5026:Brsk1
|
UTSW |
7 |
4,707,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Brsk1
|
UTSW |
7 |
4,711,865 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5267:Brsk1
|
UTSW |
7 |
4,707,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Brsk1
|
UTSW |
7 |
4,712,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5430:Brsk1
|
UTSW |
7 |
4,713,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5625:Brsk1
|
UTSW |
7 |
4,709,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Brsk1
|
UTSW |
7 |
4,718,371 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6700:Brsk1
|
UTSW |
7 |
4,695,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6866:Brsk1
|
UTSW |
7 |
4,709,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7169:Brsk1
|
UTSW |
7 |
4,718,403 (GRCm39) |
missense |
probably benign |
|
|
R8893:Brsk1
|
UTSW |
7 |
4,711,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9309:Brsk1
|
UTSW |
7 |
4,709,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9311:Brsk1
|
UTSW |
7 |
4,709,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9584:Brsk1
|
UTSW |
7 |
4,709,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Brsk1
|
UTSW |
7 |
4,710,371 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1177:Brsk1
|
UTSW |
7 |
4,707,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAGAATCTTCAGTCCC -3'
(R):5'- TAGCCTAAGCAGAAATTGGCAC -3'
Sequencing Primer
(F):5'- GAATCTTCAGTCCCAGAGCGTAG -3'
(R):5'- TTGGCACGCTGAAAGTACTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation