Incidental Mutation 'R6826:F10'
ID |
534166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F10
|
Ensembl Gene |
ENSMUSG00000031444 |
Gene Name |
coagulation factor X |
Synonyms |
fX, AI194738, Cf10 |
MMRRC Submission |
045019-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6826 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13087308-13106676 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 13096165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033821]
[ENSMUST00000063820]
[ENSMUST00000123768]
[ENSMUST00000128418]
[ENSMUST00000152034]
|
AlphaFold |
O88947 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033821
|
SMART Domains |
Protein: ENSMUSP00000033821 Gene: ENSMUSG00000031444
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
GLA
|
34 |
97 |
5.98e-32 |
SMART |
EGF_CA
|
98 |
134 |
4.56e-9 |
SMART |
EGF
|
140 |
177 |
2.66e-1 |
SMART |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
Tryp_SPc
|
243 |
471 |
9.03e-91 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000063820
|
SMART Domains |
Protein: ENSMUSP00000068389 Gene: ENSMUSG00000031444
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
GLA
|
22 |
85 |
5.98e-32 |
SMART |
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
EGF
|
128 |
165 |
2.66e-1 |
SMART |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
Tryp_SPc
|
231 |
459 |
9.03e-91 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123768
|
SMART Domains |
Protein: ENSMUSP00000116984 Gene: ENSMUSG00000031444
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
GLA
|
22 |
85 |
5.98e-32 |
SMART |
EGF
|
89 |
119 |
2.25e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000128418
|
SMART Domains |
Protein: ENSMUSP00000121830 Gene: ENSMUSG00000031444
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
GLA
|
22 |
85 |
5.98e-32 |
SMART |
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
EGF
|
128 |
165 |
2.66e-1 |
SMART |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
232 |
298 |
4e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152034
|
SMART Domains |
Protein: ENSMUSP00000117312 Gene: ENSMUSG00000031444
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
GLA
|
22 |
85 |
5.98e-32 |
SMART |
EGF_CA
|
86 |
122 |
4.56e-9 |
SMART |
EGF
|
128 |
165 |
2.66e-1 |
SMART |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
232 |
297 |
1.1e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes factor X, a component of both the intrinsic and extrinsic blood coagulation pathways. The encoded protein is a zymogen that undergoes further processing in a vitamin K-dependent manner to generate mature factor X, a heterodimer comprised of disulfide-linked heavy and light chains. The mature factor X is proteolytically activated either by factor IXa (intrinsic pathway) or factor VIIa (extrinsic pathway) to form factor Xa serine endopeptidase. Activated factor Xa catalyzes the conversion of prothrombin to thrombin. A complete lack of the encoded protein is fatal to mice. A severe deficiency of the encoded protein in mice causes age-dependent iron deposition and cardiac fibrosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] PHENOTYPE: Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,107,431 (GRCm39) |
N728S |
probably benign |
Het |
Acaca |
T |
C |
11: 84,086,362 (GRCm39) |
S63P |
probably damaging |
Het |
Akr1c12 |
A |
G |
13: 4,325,733 (GRCm39) |
V120A |
probably benign |
Het |
Ap4b1 |
G |
A |
3: 103,720,224 (GRCm39) |
|
probably null |
Het |
Apol7e |
T |
A |
15: 77,602,491 (GRCm39) |
V363D |
probably damaging |
Het |
Bmpr1b |
A |
T |
3: 141,563,167 (GRCm39) |
L259Q |
probably damaging |
Het |
Cdhr17 |
A |
G |
5: 17,013,292 (GRCm39) |
I219V |
unknown |
Het |
Clca3a2 |
T |
C |
3: 144,523,815 (GRCm39) |
T57A |
possibly damaging |
Het |
Copb1 |
T |
C |
7: 113,825,954 (GRCm39) |
T677A |
probably benign |
Het |
Crhr2 |
T |
C |
6: 55,094,725 (GRCm39) |
|
probably benign |
Het |
Cyp11a1 |
A |
G |
9: 57,932,370 (GRCm39) |
T228A |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,008,247 (GRCm39) |
I2084V |
probably benign |
Het |
Dnajc17 |
T |
C |
2: 119,011,408 (GRCm39) |
K174R |
probably damaging |
Het |
Dnm2 |
T |
A |
9: 21,415,767 (GRCm39) |
Y646* |
probably null |
Het |
Dock9 |
G |
A |
14: 121,860,330 (GRCm39) |
P866L |
probably damaging |
Het |
Elmo3 |
A |
T |
8: 106,033,378 (GRCm39) |
I115F |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,826,883 (GRCm39) |
T268A |
probably benign |
Het |
Fmo4 |
C |
T |
1: 162,631,338 (GRCm39) |
V210M |
probably damaging |
Het |
Foxred2 |
G |
T |
15: 77,831,285 (GRCm39) |
H509Q |
probably benign |
Het |
Hyal6 |
A |
G |
6: 24,734,371 (GRCm39) |
I101M |
probably damaging |
Het |
Igkv5-48 |
T |
C |
6: 69,703,584 (GRCm39) |
Y107C |
probably damaging |
Het |
Jag1 |
A |
G |
2: 136,958,095 (GRCm39) |
|
probably null |
Het |
Leng8 |
T |
A |
7: 4,148,319 (GRCm39) |
V697E |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,189,000 (GRCm39) |
N21S |
unknown |
Het |
Midn |
T |
A |
10: 79,989,961 (GRCm39) |
C126* |
probably null |
Het |
Mlh3 |
A |
T |
12: 85,292,598 (GRCm39) |
V1303E |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,137,357 (GRCm39) |
L526P |
probably damaging |
Het |
Or10ag55-ps1 |
G |
A |
2: 87,114,672 (GRCm39) |
E13K |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,452 (GRCm39) |
V173E |
probably benign |
Het |
Pde6b |
C |
T |
5: 108,578,458 (GRCm39) |
R799* |
probably null |
Het |
Pde9a |
A |
G |
17: 31,685,414 (GRCm39) |
D382G |
probably benign |
Het |
Pdrg1 |
A |
C |
2: 152,852,176 (GRCm39) |
|
probably null |
Het |
Peg10 |
C |
CATCAGGATG |
6: 4,756,353 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
C |
A |
6: 14,718,980 (GRCm39) |
E645* |
probably null |
Het |
Prrc2b |
A |
G |
2: 32,112,300 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,153,277 (GRCm39) |
M578K |
probably benign |
Het |
Rasgrp3 |
G |
T |
17: 75,810,241 (GRCm39) |
V314F |
probably damaging |
Het |
Rps9 |
C |
A |
7: 3,708,775 (GRCm39) |
D84E |
probably benign |
Het |
Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
Serpina1e |
A |
G |
12: 103,915,397 (GRCm39) |
F270L |
probably benign |
Het |
Slc24a5 |
G |
A |
2: 124,910,778 (GRCm39) |
V70I |
probably benign |
Het |
Slfn14 |
C |
A |
11: 83,172,644 (GRCm39) |
|
probably null |
Het |
Smcr8 |
G |
T |
11: 60,669,688 (GRCm39) |
D279Y |
possibly damaging |
Het |
Snx16 |
A |
T |
3: 10,503,148 (GRCm39) |
V33D |
probably damaging |
Het |
Tesc |
A |
G |
5: 118,194,483 (GRCm39) |
T131A |
probably damaging |
Het |
Tnfaip8l3 |
G |
T |
9: 53,934,783 (GRCm39) |
T64K |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,567 (GRCm39) |
Y809* |
probably null |
Het |
Vmn2r25 |
A |
G |
6: 123,800,071 (GRCm39) |
V757A |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,327 (GRCm39) |
Y457* |
probably null |
Het |
Wee1 |
T |
C |
7: 109,723,870 (GRCm39) |
|
probably null |
Het |
Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
Zfp541 |
A |
G |
7: 15,812,907 (GRCm39) |
E520G |
probably damaging |
Het |
Zfp579 |
G |
T |
7: 4,997,425 (GRCm39) |
A162D |
probably benign |
Het |
Zfp811 |
A |
G |
17: 33,016,762 (GRCm39) |
F425S |
probably damaging |
Het |
|
Other mutations in F10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01104:F10
|
APN |
8 |
13,105,686 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01296:F10
|
APN |
8 |
13,105,383 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02010:F10
|
APN |
8 |
13,098,292 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02707:F10
|
APN |
8 |
13,098,252 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:F10
|
APN |
8 |
13,098,177 (GRCm39) |
nonsense |
probably null |
|
IGL03354:F10
|
APN |
8 |
13,095,089 (GRCm39) |
missense |
probably benign |
0.00 |
ju
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4494001:F10
|
UTSW |
8 |
13,103,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:F10
|
UTSW |
8 |
13,098,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R0321:F10
|
UTSW |
8 |
13,103,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0416:F10
|
UTSW |
8 |
13,105,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R0421:F10
|
UTSW |
8 |
13,095,097 (GRCm39) |
missense |
probably benign |
0.05 |
R0545:F10
|
UTSW |
8 |
13,098,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:F10
|
UTSW |
8 |
13,105,551 (GRCm39) |
missense |
probably benign |
0.00 |
R1732:F10
|
UTSW |
8 |
13,100,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1956:F10
|
UTSW |
8 |
13,105,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R4130:F10
|
UTSW |
8 |
13,105,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4700:F10
|
UTSW |
8 |
13,089,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4989:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:F10
|
UTSW |
8 |
13,105,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7601:F10
|
UTSW |
8 |
13,100,781 (GRCm39) |
missense |
probably benign |
0.26 |
R8164:F10
|
UTSW |
8 |
13,100,781 (GRCm39) |
missense |
probably benign |
0.26 |
R8936:F10
|
UTSW |
8 |
13,095,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R9165:F10
|
UTSW |
8 |
13,089,564 (GRCm39) |
missense |
probably benign |
0.00 |
R9260:F10
|
UTSW |
8 |
13,105,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:F10
|
UTSW |
8 |
13,098,177 (GRCm39) |
nonsense |
probably null |
|
X0024:F10
|
UTSW |
8 |
13,105,859 (GRCm39) |
missense |
probably benign |
|
Z1177:F10
|
UTSW |
8 |
13,087,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAAGGAGAAGTGTGCTCAGG -3'
(R):5'- GGTGCCCTTTAACAGCTCTG -3'
Sequencing Primer
(F):5'- TCAGGCTCTCTGCAAAGTG -3'
(R):5'- TTTAACAGCTCTGGCCCAC -3'
|
Posted On |
2018-09-12 |