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 |
Incidental Mutation