Incidental Mutation 'R5906:Fchsd1'
| ID |
460666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
044103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5906 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 38092926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000177058]
[ENSMUST00000169360]
[ENSMUST00000176104]
[ENSMUST00000176902]
[ENSMUST00000168056]
[ENSMUST00000169498]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably benign
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: ENSMUST00000043498
|
| SMART Domains |
Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
11 |
315 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070709
|
| SMART Domains |
Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091932
|
| SMART Domains |
Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
8.3e-23 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163128
|
| SMART Domains |
Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
5.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163591
|
| SMART Domains |
Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177058
|
| SMART Domains |
Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169360
|
| SMART Domains |
Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
4.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176104
|
| SMART Domains |
Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
60 |
3.3e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176902
|
| SMART Domains |
Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168056
|
| SMART Domains |
Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.9e-23 |
PFAM |
|
low complexity region
|
104 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169498
|
| SMART Domains |
Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| Validation Efficiency |
95% (81/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
C |
A |
11: 58,182,260 (GRCm39) |
|
probably null |
Het |
| 9130023H24Rik |
G |
A |
7: 127,835,664 (GRCm39) |
P310S |
probably benign |
Het |
| Abcc10 |
G |
T |
17: 46,627,485 (GRCm39) |
H652Q |
probably benign |
Het |
| Actl6b |
A |
G |
5: 137,565,591 (GRCm39) |
I396V |
possibly damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,772 (GRCm39) |
|
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,436,251 (GRCm39) |
H989Q |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,925,804 (GRCm39) |
T377A |
probably benign |
Het |
| Ankmy2 |
G |
A |
12: 36,226,632 (GRCm39) |
V109M |
probably damaging |
Het |
| Anpep |
G |
A |
7: 79,483,423 (GRCm39) |
A689V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,859,938 (GRCm39) |
M350K |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,818,917 (GRCm39) |
V1213I |
probably damaging |
Het |
| Capn1 |
A |
G |
19: 6,061,451 (GRCm39) |
F156L |
possibly damaging |
Het |
| Catsperb |
C |
A |
12: 101,476,721 (GRCm39) |
F408L |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,506,350 (GRCm39) |
L697Q |
possibly damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,989,386 (GRCm39) |
V281E |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,304 (GRCm39) |
T465S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,282 (GRCm39) |
|
probably null |
Het |
| Clcnkb |
T |
C |
4: 141,139,610 (GRCm39) |
T131A |
probably benign |
Het |
| Clec5a |
T |
A |
6: 40,558,793 (GRCm39) |
M98L |
probably benign |
Het |
| Cnga1 |
A |
T |
5: 72,768,201 (GRCm39) |
F162I |
probably benign |
Het |
| Cyp27b1 |
A |
T |
10: 126,884,267 (GRCm39) |
I40F |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,265,144 (GRCm39) |
S1027G |
probably benign |
Het |
| Entpd1 |
C |
A |
19: 40,727,283 (GRCm39) |
A448E |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
| Etfdh |
T |
C |
3: 79,511,422 (GRCm39) |
I520V |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,781,253 (GRCm39) |
P386L |
probably benign |
Het |
| Gckr |
G |
T |
5: 31,463,922 (GRCm39) |
V281L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,167 (GRCm39) |
T310A |
probably benign |
Het |
| Gjc2 |
C |
A |
11: 59,067,667 (GRCm39) |
V272L |
probably benign |
Het |
| Gm13441 |
G |
C |
2: 31,777,511 (GRCm39) |
|
silent |
Het |
| H2-DMb2 |
T |
A |
17: 34,367,582 (GRCm39) |
M1K |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,302,153 (GRCm39) |
Y13C |
probably damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,784,536 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,788,413 (GRCm39) |
F336S |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,359 (GRCm39) |
D747G |
probably benign |
Het |
| Krt78 |
T |
A |
15: 101,857,030 (GRCm39) |
E359V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,252 (GRCm39) |
D2195G |
probably benign |
Het |
| Matk |
C |
T |
10: 81,096,753 (GRCm39) |
L188F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,889,496 (GRCm39) |
I399T |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nap1l1 |
A |
T |
10: 111,326,891 (GRCm39) |
K151* |
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,964,327 (GRCm39) |
S426T |
probably benign |
Het |
| Nisch |
T |
A |
14: 30,893,985 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,306 (GRCm39) |
T185A |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,369 (GRCm39) |
C126R |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,101 (GRCm39) |
I158T |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,174 (GRCm39) |
H158R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,720,854 (GRCm39) |
D17G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,791,894 (GRCm39) |
V1194M |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,756,387 (GRCm39) |
I1615N |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,625,045 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
T |
A |
2: 59,135,420 (GRCm39) |
N97K |
possibly damaging |
Het |
| Prrx2 |
C |
T |
2: 30,769,522 (GRCm39) |
R78C |
probably damaging |
Het |
| Pycr1 |
T |
A |
11: 120,532,988 (GRCm39) |
I91F |
probably damaging |
Het |
| Rap1a |
T |
C |
3: 105,645,081 (GRCm39) |
N87S |
possibly damaging |
Het |
| Sbk2 |
T |
G |
7: 4,960,627 (GRCm39) |
Y181S |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,808,712 (GRCm39) |
D874E |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,328,843 (GRCm39) |
H1057Q |
possibly damaging |
Het |
| Sfswap |
G |
A |
5: 129,619,107 (GRCm39) |
E486K |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,433,119 (GRCm39) |
V1213A |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,848,102 (GRCm39) |
I329K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,594,813 (GRCm39) |
N1186Y |
probably damaging |
Het |
| Ssbp3 |
A |
G |
4: 106,867,018 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
A |
1: 120,171,731 (GRCm39) |
I125F |
probably damaging |
Het |
| Synpr |
C |
A |
14: 13,608,788 (GRCm38) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,776,886 (GRCm39) |
L69P |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,880,314 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn1r29 |
G |
A |
6: 58,284,736 (GRCm39) |
S152N |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,550 (GRCm39) |
I183V |
probably benign |
Het |
| Wdr17 |
C |
G |
8: 55,092,503 (GRCm39) |
V1094L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,487,692 (GRCm39) |
I109V |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,717 (GRCm39) |
D7G |
probably benign |
Het |
| Zfp512 |
A |
T |
5: 31,637,408 (GRCm39) |
Q443L |
probably damaging |
Het |
| Zfp974 |
T |
A |
7: 27,610,230 (GRCm39) |
K498N |
possibly 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 |
|
|
R1524:Fchsd1
|
UTSW |
18 |
38,098,950 (GRCm39) |
critical splice donor 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 |
|
|
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'- AGTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- CAATAGGCATTTTGAGGGGCAG -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation