Incidental Mutation 'R5845:Fscb'
| ID |
453579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscb
|
| Ensembl Gene |
ENSMUSG00000043060 |
| Gene Name |
fibrous sheath CABYR binding protein |
| Synonyms |
EG623046 |
| MMRRC Submission |
044063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64519558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 636
(V636A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059833]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000059833
AA Change: V636A
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: V636A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
295 |
465 |
2.4e-7 |
PROSPERO |
|
low complexity region
|
483 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
730 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
736 |
895 |
2.4e-7 |
PROSPERO |
|
internal_repeat_2
|
751 |
871 |
6.17e-6 |
PROSPERO |
|
low complexity region
|
899 |
916 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
919 |
1046 |
6.17e-6 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
| Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
| Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
| Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
| Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
| Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
| Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
| Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
| Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
| Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
| Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
| Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
| Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
| Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
| Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zswim4 |
T |
A |
8: 84,943,871 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fscb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Fscb
|
APN |
12 |
64,520,155 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01099:Fscb
|
APN |
12 |
64,518,875 (GRCm39) |
missense |
unknown |
|
|
IGL01394:Fscb
|
APN |
12 |
64,520,578 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02570:Fscb
|
APN |
12 |
64,518,952 (GRCm39) |
missense |
unknown |
|
|
IGL02974:Fscb
|
APN |
12 |
64,518,299 (GRCm39) |
missense |
unknown |
|
|
IGL03150:Fscb
|
APN |
12 |
64,519,204 (GRCm39) |
missense |
unknown |
|
|
IGL03407:Fscb
|
APN |
12 |
64,520,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB007:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
|
BB017:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
|
FR4548:Fscb
|
UTSW |
12 |
64,519,339 (GRCm39) |
missense |
unknown |
|
|
FR4548:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
|
R0056:Fscb
|
UTSW |
12 |
64,521,021 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0490:Fscb
|
UTSW |
12 |
64,519,661 (GRCm39) |
missense |
unknown |
|
|
R0492:Fscb
|
UTSW |
12 |
64,520,292 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0702:Fscb
|
UTSW |
12 |
64,518,775 (GRCm39) |
missense |
unknown |
|
|
R1017:Fscb
|
UTSW |
12 |
64,520,242 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1672:Fscb
|
UTSW |
12 |
64,518,292 (GRCm39) |
missense |
unknown |
|
|
R1737:Fscb
|
UTSW |
12 |
64,521,355 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1795:Fscb
|
UTSW |
12 |
64,521,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1969:Fscb
|
UTSW |
12 |
64,520,008 (GRCm39) |
missense |
unknown |
|
|
R1984:Fscb
|
UTSW |
12 |
64,521,457 (GRCm39) |
missense |
unknown |
|
|
R2164:Fscb
|
UTSW |
12 |
64,520,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2213:Fscb
|
UTSW |
12 |
64,520,890 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2874:Fscb
|
UTSW |
12 |
64,520,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2878:Fscb
|
UTSW |
12 |
64,519,348 (GRCm39) |
missense |
unknown |
|
|
R3873:Fscb
|
UTSW |
12 |
64,519,906 (GRCm39) |
missense |
unknown |
|
|
R4734:Fscb
|
UTSW |
12 |
64,521,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4773:Fscb
|
UTSW |
12 |
64,520,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Fscb
|
UTSW |
12 |
64,520,588 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4981:Fscb
|
UTSW |
12 |
64,520,393 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5105:Fscb
|
UTSW |
12 |
64,520,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6049:Fscb
|
UTSW |
12 |
64,521,094 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6743:Fscb
|
UTSW |
12 |
64,518,347 (GRCm39) |
missense |
unknown |
|
|
R7026:Fscb
|
UTSW |
12 |
64,518,391 (GRCm39) |
missense |
unknown |
|
|
R7285:Fscb
|
UTSW |
12 |
64,518,323 (GRCm39) |
missense |
unknown |
|
|
R7372:Fscb
|
UTSW |
12 |
64,518,598 (GRCm39) |
missense |
unknown |
|
|
R7400:Fscb
|
UTSW |
12 |
64,518,391 (GRCm39) |
missense |
unknown |
|
|
R7563:Fscb
|
UTSW |
12 |
64,520,059 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7748:Fscb
|
UTSW |
12 |
64,521,181 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7759:Fscb
|
UTSW |
12 |
64,520,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7930:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
|
R8026:Fscb
|
UTSW |
12 |
64,521,049 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8070:Fscb
|
UTSW |
12 |
64,521,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8081:Fscb
|
UTSW |
12 |
64,518,802 (GRCm39) |
missense |
unknown |
|
|
R8331:Fscb
|
UTSW |
12 |
64,520,242 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8405:Fscb
|
UTSW |
12 |
64,520,278 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8788:Fscb
|
UTSW |
12 |
64,518,395 (GRCm39) |
missense |
unknown |
|
|
R8833:Fscb
|
UTSW |
12 |
64,519,997 (GRCm39) |
missense |
unknown |
|
|
R8997:Fscb
|
UTSW |
12 |
64,520,758 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9192:Fscb
|
UTSW |
12 |
64,520,890 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9282:Fscb
|
UTSW |
12 |
64,520,097 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9437:Fscb
|
UTSW |
12 |
64,519,708 (GRCm39) |
missense |
unknown |
|
|
R9581:Fscb
|
UTSW |
12 |
64,521,122 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF011:Fscb
|
UTSW |
12 |
64,519,768 (GRCm39) |
small deletion |
probably benign |
|
|
RF019:Fscb
|
UTSW |
12 |
64,519,370 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Fscb
|
UTSW |
12 |
64,519,343 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Fscb
|
UTSW |
12 |
64,519,704 (GRCm39) |
missense |
unknown |
|
|
Z1177:Fscb
|
UTSW |
12 |
64,519,402 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACTTCTACAGGGGCCTCC -3'
(R):5'- TTCTACCTCCACCAGCAGAG -3'
Sequencing Primer
(F):5'- TAGAACTTCTACAGGGGCCTC -3'
(R):5'- AGGAGGTCCCTGCAGAAGTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation