Incidental Mutation 'R8810:Hc'
| ID |
672319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hc
|
| Ensembl Gene |
ENSMUSG00000026874 |
| Gene Name |
hemolytic complement |
| Synonyms |
He, C5, C5a |
| MMRRC Submission |
068725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R8810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34983331-35061438 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35019523 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 915
(N915S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028233]
|
| AlphaFold |
P06684 |
| PDB Structure |
Crystal structure of the mouse C5a anaphylatoxin [X-RAY DIFFRACTION]
Crystal structure of the mouse C5a-desArg anaphylatoxin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028233
AA Change: N915S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028233
Gene: ENSMUSG00000026874
AA Change: N915S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M_N
|
125 |
219 |
1.8e-15 |
PFAM |
|
A2M_N_2
|
465 |
612 |
9.83e-34 |
SMART |
|
ANATO
|
702 |
736 |
4.73e-12 |
SMART |
|
A2M
|
776 |
863 |
2.44e-29 |
SMART |
|
Pfam:A2M_comp
|
1055 |
1306 |
2.3e-68 |
PFAM |
|
A2M_recep
|
1423 |
1513 |
7.29e-28 |
SMART |
|
C345C
|
1553 |
1665 |
1.51e-35 |
SMART |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
99% (82/83) |
| MGI Phenotype |
FUNCTION: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mice with a homozygous mutation in this gene exhibit impaired bone fracture healing and an enhanced inflammatory response in an allergic lung disease model. [provided by RefSeq, Nov 2015]
PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 79,099,704 (GRCm38) |
S1408P |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,905,712 (GRCm38) |
V783A |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,306,530 (GRCm38) |
N525S |
probably damaging |
Het |
| Aqp1 |
C |
T |
6: 55,336,621 (GRCm38) |
T44M |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,404,378 (GRCm38) |
Y1305H |
probably damaging |
Het |
| Atg2a |
T |
G |
19: 6,250,621 (GRCm38) |
S743A |
probably benign |
Het |
| AW551984 |
G |
T |
9: 39,600,011 (GRCm38) |
L133I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,273,761 (GRCm38) |
P802T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,609,949 (GRCm38) |
V288L |
probably benign |
Het |
| Carmil2 |
T |
C |
8: 105,686,315 (GRCm38) |
|
probably null |
Het |
| Catspere2 |
G |
A |
1: 178,077,482 (GRCm38) |
E153K |
possibly damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,666,741 (GRCm38) |
R379Q |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 104,614,504 (GRCm38) |
L116P |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,558,619 (GRCm38) |
H260Q |
possibly damaging |
Het |
| Cenpq |
A |
G |
17: 40,933,136 (GRCm38) |
V17A |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,928,116 (GRCm38) |
K1074E |
probably damaging |
Het |
| Chil4 |
C |
A |
3: 106,201,805 (GRCm38) |
C394F |
probably damaging |
Het |
| Chst9 |
T |
C |
18: 15,717,926 (GRCm38) |
I28V |
probably benign |
Het |
| Clasp2 |
C |
A |
9: 113,899,581 (GRCm38) |
N873K |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,181,310 (GRCm38) |
M45K |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,063,540 (GRCm38) |
T3427S |
possibly damaging |
Het |
| Cnih4 |
A |
G |
1: 181,162,212 (GRCm38) |
Y130C |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,304,545 (GRCm38) |
M529K |
probably damaging |
Het |
| Ctsr |
T |
A |
13: 61,161,825 (GRCm38) |
Y190F |
probably damaging |
Het |
| Cyp2j13 |
G |
A |
4: 96,056,916 (GRCm38) |
H351Y |
probably benign |
Het |
| Dixdc1 |
T |
A |
9: 50,701,965 (GRCm38) |
Q230L |
probably damaging |
Het |
| Dpep1 |
A |
T |
8: 123,200,025 (GRCm38) |
I226F |
probably benign |
Het |
| Ehd2 |
A |
G |
7: 15,957,678 (GRCm38) |
V243A |
probably benign |
Het |
| Etnk2 |
T |
A |
1: 133,378,494 (GRCm38) |
Y353N |
probably benign |
Het |
| Fgg |
G |
T |
3: 83,013,015 (GRCm38) |
G367V |
probably damaging |
Het |
| Gm11639 |
A |
T |
11: 104,914,895 (GRCm38) |
N3076I |
unknown |
Het |
| Gm609 |
T |
C |
16: 45,443,836 (GRCm38) |
T120A |
probably benign |
Het |
| Gm9772 |
T |
C |
17: 22,006,329 (GRCm38) |
*61Q |
probably null |
Het |
| Grk5 |
T |
G |
19: 61,089,994 (GRCm38) |
D496E |
possibly damaging |
Het |
| Iah1 |
G |
T |
12: 21,317,387 (GRCm38) |
Q31H |
probably benign |
Het |
| Insr |
T |
C |
8: 3,169,714 (GRCm38) |
D936G |
probably benign |
Het |
| Ints6 |
A |
C |
14: 62,702,453 (GRCm38) |
V596G |
probably benign |
Het |
| Ispd |
A |
T |
12: 36,390,482 (GRCm38) |
N130Y |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 111,024,851 (GRCm38) |
D113G |
possibly damaging |
Het |
| Kdm4b |
A |
T |
17: 56,399,771 (GRCm38) |
I928F |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 116,075,291 (GRCm38) |
|
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,235,070 (GRCm38) |
V432I |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,568,489 (GRCm38) |
E336G |
probably benign |
Het |
| Maml2 |
C |
A |
9: 13,621,622 (GRCm38) |
Q711K |
|
Het |
| Map3k14 |
T |
C |
11: 103,227,672 (GRCm38) |
T563A |
possibly damaging |
Het |
| Mcu |
T |
A |
10: 59,467,713 (GRCm38) |
K101* |
probably null |
Het |
| Mettl22 |
T |
A |
16: 8,485,928 (GRCm38) |
V286E |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 123,009,611 (GRCm38) |
N1396K |
possibly damaging |
Het |
| Mprip |
T |
C |
11: 59,697,025 (GRCm38) |
|
probably benign |
Het |
| Mrpl51 |
C |
T |
6: 125,193,381 (GRCm38) |
L117F |
probably damaging |
Het |
| Myo1d |
C |
A |
11: 80,674,932 (GRCm38) |
V356F |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,676,932 (GRCm38) |
I241F |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,385,934 (GRCm38) |
|
probably benign |
Het |
| Nacad |
T |
C |
11: 6,602,853 (GRCm38) |
T113A |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,364,411 (GRCm38) |
|
probably benign |
Het |
| Olfr1134 |
T |
C |
2: 87,656,247 (GRCm38) |
I225V |
possibly damaging |
Het |
| Olfr1336 |
T |
C |
7: 6,460,764 (GRCm38) |
L85P |
probably damaging |
Het |
| Olfr1358 |
G |
A |
10: 78,520,450 (GRCm38) |
V281M |
possibly damaging |
Het |
| Olfr290 |
T |
A |
7: 84,916,418 (GRCm38) |
I213N |
possibly damaging |
Het |
| Olfr30 |
T |
C |
11: 58,455,110 (GRCm38) |
T280A |
possibly damaging |
Het |
| Olfr661 |
T |
A |
7: 104,688,180 (GRCm38) |
I55N |
probably damaging |
Het |
| Osbpl3 |
T |
C |
6: 50,351,872 (GRCm38) |
D117G |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,953,611 (GRCm38) |
R318* |
probably null |
Het |
| Pcdhb18 |
A |
G |
18: 37,490,321 (GRCm38) |
I235V |
probably benign |
Het |
| Pex16 |
T |
G |
2: 92,379,021 (GRCm38) |
|
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,114,963 (GRCm38) |
M489L |
probably benign |
Het |
| Pmepa1 |
C |
A |
2: 173,227,835 (GRCm38) |
G271V |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,603,579 (GRCm38) |
E659G |
unknown |
Het |
| Scn9a |
T |
C |
2: 66,501,666 (GRCm38) |
T1289A |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,775,676 (GRCm38) |
D27G |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,693,981 (GRCm38) |
V14A |
probably benign |
Het |
| Serpinb9b |
C |
A |
13: 33,029,469 (GRCm38) |
T3N |
possibly damaging |
Het |
| Sfxn5 |
C |
T |
6: 85,229,200 (GRCm38) |
M315I |
probably benign |
Het |
| Slc9b2 |
A |
G |
3: 135,329,769 (GRCm38) |
D333G |
probably benign |
Het |
| Sostdc1 |
A |
G |
12: 36,317,230 (GRCm38) |
N135S |
possibly damaging |
Het |
| Spg11 |
T |
G |
2: 122,070,944 (GRCm38) |
D1505A |
probably damaging |
Het |
| Taar7a |
T |
C |
10: 23,993,381 (GRCm38) |
N34S |
probably benign |
Het |
| Tcerg1l |
C |
A |
7: 138,209,797 (GRCm38) |
R556L |
possibly damaging |
Het |
| Tcp11l1 |
T |
C |
2: 104,688,418 (GRCm38) |
K311R |
probably benign |
Het |
| Tepp |
A |
T |
8: 95,321,255 (GRCm38) |
|
probably benign |
Het |
| Trbv16 |
T |
G |
6: 41,152,038 (GRCm38) |
F52C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,895,672 (GRCm38) |
R6073S |
unknown |
Het |
| Uba1y |
T |
C |
Y: 828,818 (GRCm38) |
I542T |
possibly damaging |
Het |
| Vmn1r214 |
T |
C |
13: 23,034,912 (GRCm38) |
I192T |
probably benign |
Het |
| Vmn2r67 |
C |
T |
7: 85,137,138 (GRCm38) |
C553Y |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,948,260 (GRCm38) |
H452N |
possibly damaging |
Het |
|
| Other mutations in Hc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00694:Hc
|
APN |
2 |
34,991,629 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00922:Hc
|
APN |
2 |
34,991,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01523:Hc
|
APN |
2 |
35,039,238 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01746:Hc
|
APN |
2 |
35,057,326 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01793:Hc
|
APN |
2 |
35,028,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01972:Hc
|
APN |
2 |
34,983,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02037:Hc
|
APN |
2 |
35,013,519 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02048:Hc
|
APN |
2 |
34,996,027 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02227:Hc
|
APN |
2 |
35,009,911 (GRCm38) |
intron |
probably benign |
|
|
IGL02230:Hc
|
APN |
2 |
35,013,670 (GRCm38) |
missense |
probably benign |
|
|
IGL02254:Hc
|
APN |
2 |
34,984,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02363:Hc
|
APN |
2 |
35,000,835 (GRCm38) |
missense |
probably benign |
|
|
IGL02650:Hc
|
APN |
2 |
35,000,874 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL03053:Hc
|
APN |
2 |
35,024,198 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03168:Hc
|
APN |
2 |
35,024,198 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03341:Hc
|
APN |
2 |
35,003,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
PIT4142001:Hc
|
UTSW |
2 |
35,031,821 (GRCm38) |
splice site |
probably benign |
|
|
PIT4378001:Hc
|
UTSW |
2 |
35,031,864 (GRCm38) |
missense |
probably benign |
0.13 |
|
PIT4508001:Hc
|
UTSW |
2 |
34,984,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
PIT4812001:Hc
|
UTSW |
2 |
35,029,452 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0025:Hc
|
UTSW |
2 |
34,986,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0053:Hc
|
UTSW |
2 |
35,057,275 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0197:Hc
|
UTSW |
2 |
34,984,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0218:Hc
|
UTSW |
2 |
35,028,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0242:Hc
|
UTSW |
2 |
35,036,154 (GRCm38) |
splice site |
probably benign |
|
|
R0496:Hc
|
UTSW |
2 |
35,013,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1205:Hc
|
UTSW |
2 |
35,003,524 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1468:Hc
|
UTSW |
2 |
34,983,807 (GRCm38) |
nonsense |
probably null |
|
|
R1468:Hc
|
UTSW |
2 |
34,983,807 (GRCm38) |
nonsense |
probably null |
|
|
R1574:Hc
|
UTSW |
2 |
35,000,765 (GRCm38) |
intron |
probably benign |
|
|
R1610:Hc
|
UTSW |
2 |
35,006,161 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1640:Hc
|
UTSW |
2 |
35,057,324 (GRCm38) |
nonsense |
probably null |
|
|
R1887:Hc
|
UTSW |
2 |
35,034,611 (GRCm38) |
missense |
probably benign |
|
|
R1920:Hc
|
UTSW |
2 |
35,029,395 (GRCm38) |
splice site |
probably benign |
|
|
R2018:Hc
|
UTSW |
2 |
35,013,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2019:Hc
|
UTSW |
2 |
35,013,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2151:Hc
|
UTSW |
2 |
34,991,103 (GRCm38) |
intron |
probably benign |
|
|
R2366:Hc
|
UTSW |
2 |
35,013,636 (GRCm38) |
missense |
probably benign |
|
|
R4093:Hc
|
UTSW |
2 |
34,983,807 (GRCm38) |
nonsense |
probably null |
|
|
R4288:Hc
|
UTSW |
2 |
35,030,402 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4501:Hc
|
UTSW |
2 |
34,997,476 (GRCm38) |
splice site |
probably null |
|
|
R4502:Hc
|
UTSW |
2 |
35,006,252 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4508:Hc
|
UTSW |
2 |
35,013,065 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4583:Hc
|
UTSW |
2 |
35,028,177 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4686:Hc
|
UTSW |
2 |
35,039,248 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4776:Hc
|
UTSW |
2 |
35,039,734 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4846:Hc
|
UTSW |
2 |
35,019,670 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5032:Hc
|
UTSW |
2 |
35,013,532 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5089:Hc
|
UTSW |
2 |
35,024,890 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5289:Hc
|
UTSW |
2 |
34,996,014 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5347:Hc
|
UTSW |
2 |
35,037,624 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5356:Hc
|
UTSW |
2 |
34,994,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5379:Hc
|
UTSW |
2 |
34,991,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5403:Hc
|
UTSW |
2 |
35,057,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5418:Hc
|
UTSW |
2 |
35,008,183 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5450:Hc
|
UTSW |
2 |
35,013,038 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5494:Hc
|
UTSW |
2 |
35,003,539 (GRCm38) |
splice site |
probably null |
|
|
R5713:Hc
|
UTSW |
2 |
35,013,531 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5898:Hc
|
UTSW |
2 |
34,997,437 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5925:Hc
|
UTSW |
2 |
35,030,450 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5942:Hc
|
UTSW |
2 |
35,028,125 (GRCm38) |
nonsense |
probably null |
|
|
R5991:Hc
|
UTSW |
2 |
35,006,105 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6036:Hc
|
UTSW |
2 |
35,039,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6036:Hc
|
UTSW |
2 |
35,039,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6115:Hc
|
UTSW |
2 |
35,013,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6234:Hc
|
UTSW |
2 |
35,028,046 (GRCm38) |
missense |
probably benign |
|
|
R6264:Hc
|
UTSW |
2 |
35,006,273 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6313:Hc
|
UTSW |
2 |
34,989,839 (GRCm38) |
splice site |
probably null |
|
|
R6525:Hc
|
UTSW |
2 |
34,991,224 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6577:Hc
|
UTSW |
2 |
35,032,126 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6601:Hc
|
UTSW |
2 |
35,045,894 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6916:Hc
|
UTSW |
2 |
35,010,032 (GRCm38) |
nonsense |
probably null |
|
|
R7108:Hc
|
UTSW |
2 |
35,039,694 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7143:Hc
|
UTSW |
2 |
35,050,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7388:Hc
|
UTSW |
2 |
34,984,847 (GRCm38) |
splice site |
probably null |
|
|
R7468:Hc
|
UTSW |
2 |
35,028,051 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7504:Hc
|
UTSW |
2 |
35,061,319 (GRCm38) |
missense |
not run |
|
|
R7521:Hc
|
UTSW |
2 |
35,045,332 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7582:Hc
|
UTSW |
2 |
34,991,266 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7596:Hc
|
UTSW |
2 |
35,000,847 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7599:Hc
|
UTSW |
2 |
35,050,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7692:Hc
|
UTSW |
2 |
35,024,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7853:Hc
|
UTSW |
2 |
35,010,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7877:Hc
|
UTSW |
2 |
34,997,399 (GRCm38) |
nonsense |
probably null |
|
|
R8329:Hc
|
UTSW |
2 |
35,012,898 (GRCm38) |
splice site |
probably null |
|
|
R8375:Hc
|
UTSW |
2 |
34,983,719 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8477:Hc
|
UTSW |
2 |
34,989,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8888:Hc
|
UTSW |
2 |
35,000,849 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8895:Hc
|
UTSW |
2 |
35,000,849 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8968:Hc
|
UTSW |
2 |
35,032,305 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8969:Hc
|
UTSW |
2 |
35,019,463 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9146:Hc
|
UTSW |
2 |
35,034,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9218:Hc
|
UTSW |
2 |
35,032,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9340:Hc
|
UTSW |
2 |
34,986,282 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9396:Hc
|
UTSW |
2 |
35,037,603 (GRCm38) |
nonsense |
probably null |
|
|
R9569:Hc
|
UTSW |
2 |
35,036,347 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9576:Hc
|
UTSW |
2 |
34,983,755 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9706:Hc
|
UTSW |
2 |
35,024,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0066:Hc
|
UTSW |
2 |
34,983,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Hc
|
UTSW |
2 |
35,029,470 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1088:Hc
|
UTSW |
2 |
35,008,249 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
Z1176:Hc
|
UTSW |
2 |
35,006,273 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1177:Hc
|
UTSW |
2 |
35,013,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGATGGGATCCCTCAACGG -3'
(R):5'- GAGCTGTTCTTACACAGTTCTTCAC -3'
Sequencing Primer
(F):5'- GGATCCCTCAACGGTTACCATG -3'
(R):5'- ACCTGTTGCATTCCAGTTCTGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation