Incidental Mutation 'R1524:Fchsd1'
| ID |
167750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
039565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 38098950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043437
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
21 |
100 |
1.6e-19 |
PFAM |
|
coiled coil region
|
188 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
357 |
N/A |
INTRINSIC |
|
SH3
|
469 |
526 |
1.34e-8 |
SMART |
|
SH3
|
547 |
606 |
1.94e-14 |
SMART |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163131
|
| SMART Domains |
Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
107 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164222
|
| SMART Domains |
Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
56 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166148
|
| SMART Domains |
Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
93 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171253
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
G |
T |
5: 88,119,548 (GRCm39) |
V102L |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,368,854 (GRCm39) |
Y111H |
probably damaging |
Het |
| Adcy10 |
G |
T |
1: 165,345,972 (GRCm39) |
K340N |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,820,089 (GRCm39) |
V355A |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,162 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,000 (GRCm39) |
V390A |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,813,599 (GRCm39) |
Q315L |
probably benign |
Het |
| C1qtnf6 |
T |
G |
15: 78,409,092 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,757,186 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
A |
7: 28,582,189 (GRCm39) |
|
probably benign |
Het |
| Ceacam18 |
A |
C |
7: 43,288,779 (GRCm39) |
T177P |
possibly damaging |
Het |
| Ces5a |
A |
T |
8: 94,252,293 (GRCm39) |
F200I |
probably damaging |
Het |
| Cldn19 |
G |
T |
4: 119,114,248 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
G |
6: 46,507,613 (GRCm39) |
S46P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,413,732 (GRCm39) |
Y1028H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,355,155 (GRCm39) |
F253L |
probably damaging |
Het |
| Fam161a |
A |
G |
11: 22,965,826 (GRCm39) |
N40D |
possibly damaging |
Het |
| Fam81a |
A |
T |
9: 70,032,390 (GRCm39) |
I34N |
probably damaging |
Het |
| Fut11 |
T |
A |
14: 20,746,234 (GRCm39) |
F359I |
possibly damaging |
Het |
| Fut7 |
T |
C |
2: 25,315,159 (GRCm39) |
V92A |
probably damaging |
Het |
| Grid2 |
C |
G |
6: 64,406,738 (GRCm39) |
F699L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,467 (GRCm39) |
S445P |
possibly damaging |
Het |
| H2al2b |
A |
C |
Y: 2,720,391 (GRCm39) |
F95C |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,890,777 (GRCm39) |
D1246G |
probably damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,032 (GRCm39) |
N56S |
probably damaging |
Het |
| Ldb3 |
C |
A |
14: 34,277,313 (GRCm39) |
V354L |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,192 (GRCm39) |
Y479C |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,178,444 (GRCm39) |
V1595A |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,323 (GRCm39) |
V2939A |
possibly damaging |
Het |
| Mapre3 |
T |
G |
5: 31,019,261 (GRCm39) |
I35S |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,734,150 (GRCm39) |
L588Q |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,398,198 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
C |
A |
1: 171,899,716 (GRCm39) |
R322L |
possibly damaging |
Het |
| Ndst1 |
A |
T |
18: 60,831,576 (GRCm39) |
I594N |
probably damaging |
Het |
| Ndst3 |
A |
G |
3: 123,342,555 (GRCm39) |
I752T |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,006,681 (GRCm39) |
S1185R |
probably damaging |
Het |
| Or5b112 |
T |
A |
19: 13,319,486 (GRCm39) |
C121* |
probably null |
Het |
| Or6aa1 |
A |
G |
7: 86,044,020 (GRCm39) |
S229P |
probably benign |
Het |
| Or9q1 |
A |
T |
19: 13,805,679 (GRCm39) |
L27H |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,536,900 (GRCm39) |
D1285V |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,617,880 (GRCm39) |
I125T |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,112,543 (GRCm39) |
S240P |
probably damaging |
Het |
| Pi15 |
T |
C |
1: 17,690,076 (GRCm39) |
S126P |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,188,004 (GRCm39) |
S3435G |
probably damaging |
Het |
| Plin1 |
C |
A |
7: 79,376,338 (GRCm39) |
V133L |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,080,776 (GRCm39) |
C7S |
unknown |
Het |
| Ppp3ca |
A |
T |
3: 136,503,579 (GRCm39) |
M51L |
probably benign |
Het |
| Primpol |
G |
T |
8: 47,039,502 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,319,419 (GRCm39) |
V116A |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,831 (GRCm39) |
E169G |
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,761,266 (GRCm39) |
D35G |
probably damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,156,671 (GRCm39) |
K38M |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,699,427 (GRCm39) |
I888F |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,318,394 (GRCm39) |
V1566F |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,479,915 (GRCm39) |
T874A |
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,286,491 (GRCm39) |
D891E |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,344,978 (GRCm39) |
Y110D |
probably damaging |
Het |
| Smarcd2 |
C |
T |
11: 106,157,978 (GRCm39) |
V97I |
probably benign |
Het |
| St6galnac2 |
G |
A |
11: 116,575,313 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,585 (GRCm39) |
L149P |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,217,442 (GRCm39) |
I208V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,016 (GRCm39) |
I2522T |
possibly damaging |
Het |
| Ttll5 |
T |
A |
12: 85,911,342 (GRCm39) |
Y233* |
probably null |
Het |
| Vcpip1 |
C |
T |
1: 9,794,727 (GRCm39) |
E1215K |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,728,737 (GRCm39) |
|
probably benign |
Het |
| Zfp703 |
G |
A |
8: 27,469,401 (GRCm39) |
G355D |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,655,794 (GRCm39) |
D199E |
probably damaging |
Het |
|
| Other mutations in Fchsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Fchsd1
|
APN |
18 |
38,098,946 (GRCm39) |
intron |
probably benign |
|
|
IGL01097:Fchsd1
|
APN |
18 |
38,100,810 (GRCm39) |
splice site |
probably null |
|
|
IGL02069:Fchsd1
|
APN |
18 |
38,100,667 (GRCm39) |
nonsense |
probably null |
|
|
R0015:Fchsd1
|
UTSW |
18 |
38,096,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0015:Fchsd1
|
UTSW |
18 |
38,096,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0755:Fchsd1
|
UTSW |
18 |
38,101,803 (GRCm39) |
splice site |
probably null |
|
|
R2041:Fchsd1
|
UTSW |
18 |
38,100,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3820:Fchsd1
|
UTSW |
18 |
38,102,510 (GRCm39) |
splice site |
probably benign |
|
|
R3821:Fchsd1
|
UTSW |
18 |
38,102,510 (GRCm39) |
splice site |
probably benign |
|
|
R4998:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5017:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5018:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5022:Fchsd1
|
UTSW |
18 |
38,097,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5023:Fchsd1
|
UTSW |
18 |
38,097,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5047:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5240:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5309:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5312:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5353:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5354:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5355:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5424:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5517:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5518:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5521:Fchsd1
|
UTSW |
18 |
38,099,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Fchsd1
|
UTSW |
18 |
38,094,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5608:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5810:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5828:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5906:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5949:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5958:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5969:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R6245:Fchsd1
|
UTSW |
18 |
38,095,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Fchsd1
|
UTSW |
18 |
38,098,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6433:Fchsd1
|
UTSW |
18 |
38,097,137 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6439:Fchsd1
|
UTSW |
18 |
38,102,487 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6460:Fchsd1
|
UTSW |
18 |
38,092,897 (GRCm39) |
splice site |
probably null |
|
|
R6488:Fchsd1
|
UTSW |
18 |
38,100,321 (GRCm39) |
splice site |
probably null |
|
|
R6650:Fchsd1
|
UTSW |
18 |
38,099,555 (GRCm39) |
nonsense |
probably null |
|
|
R7331:Fchsd1
|
UTSW |
18 |
38,101,823 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7715:Fchsd1
|
UTSW |
18 |
38,099,695 (GRCm39) |
splice site |
probably null |
|
|
R7962:Fchsd1
|
UTSW |
18 |
38,097,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8140:Fchsd1
|
UTSW |
18 |
38,097,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Fchsd1
|
UTSW |
18 |
38,099,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Fchsd1
|
UTSW |
18 |
38,100,823 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8747:Fchsd1
|
UTSW |
18 |
38,096,035 (GRCm39) |
missense |
probably benign |
|
|
R9209:Fchsd1
|
UTSW |
18 |
38,092,706 (GRCm39) |
missense |
unknown |
|
|
R9745:Fchsd1
|
UTSW |
18 |
38,102,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Fchsd1
|
UTSW |
18 |
38,102,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAAACCCCTGTCCAAGGCTG -3'
(R):5'- ACCCATAAATGGATGCTGTCTGCAC -3'
Sequencing Primer
(F):5'- TGTCCAAGGCTGAACAGTCATC -3'
(R):5'- GATGCTGTCTGCACTAGAGTCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation