Incidental Mutation 'R8021:Itih2'
ID |
617338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itih2
|
Ensembl Gene |
ENSMUSG00000037254 |
Gene Name |
inter-alpha trypsin inhibitor, heavy chain 2 |
Synonyms |
Itih-2, Intin2 |
MMRRC Submission |
067460-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R8021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10110463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 543
(T543A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000155809]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042290
AA Change: T543A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000046530 Gene: ENSMUSG00000037254 AA Change: T543A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
VIT
|
60 |
189 |
4.35e-77 |
SMART |
VWA
|
312 |
498 |
6.6e-32 |
SMART |
Pfam:ITI_HC_C
|
740 |
925 |
1.7e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155809
|
SMART Domains |
Protein: ENSMUSP00000124636 Gene: ENSMUSG00000037254
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
VIT
|
60 |
189 |
4.35e-77 |
SMART |
VWA
|
312 |
452 |
4.51e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (74/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
Catsperb |
A |
C |
12: 101,554,322 (GRCm39) |
N672T |
probably benign |
Het |
Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
Grik1 |
C |
T |
16: 87,711,110 (GRCm39) |
V832I |
|
Het |
Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
Mast3 |
C |
T |
8: 71,240,896 (GRCm39) |
G218S |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
Rad54l2 |
T |
C |
9: 106,596,840 (GRCm39) |
S189G |
probably benign |
Het |
Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
Ttc41 |
C |
A |
10: 86,569,578 (GRCm39) |
T652N |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
probably damaging |
Het |
|
Other mutations in Itih2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01641:Itih2
|
APN |
2 |
10,115,250 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01775:Itih2
|
APN |
2 |
10,134,097 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02516:Itih2
|
APN |
2 |
10,102,728 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02698:Itih2
|
APN |
2 |
10,135,312 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02747:Itih2
|
APN |
2 |
10,102,756 (GRCm39) |
missense |
probably benign |
0.35 |
IGL03162:Itih2
|
APN |
2 |
10,131,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03325:Itih2
|
APN |
2 |
10,111,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Itih2
|
UTSW |
2 |
10,120,110 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0316:Itih2
|
UTSW |
2 |
10,110,057 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0415:Itih2
|
UTSW |
2 |
10,110,426 (GRCm39) |
unclassified |
probably benign |
|
R0612:Itih2
|
UTSW |
2 |
10,122,205 (GRCm39) |
missense |
probably benign |
0.16 |
R0625:Itih2
|
UTSW |
2 |
10,128,225 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0766:Itih2
|
UTSW |
2 |
10,102,735 (GRCm39) |
missense |
probably benign |
0.21 |
R1312:Itih2
|
UTSW |
2 |
10,102,735 (GRCm39) |
missense |
probably benign |
0.21 |
R1322:Itih2
|
UTSW |
2 |
10,114,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Itih2
|
UTSW |
2 |
10,111,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Itih2
|
UTSW |
2 |
10,110,025 (GRCm39) |
missense |
probably benign |
0.27 |
R1622:Itih2
|
UTSW |
2 |
10,106,890 (GRCm39) |
missense |
probably benign |
0.00 |
R1649:Itih2
|
UTSW |
2 |
10,110,546 (GRCm39) |
missense |
probably benign |
0.37 |
R2064:Itih2
|
UTSW |
2 |
10,135,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2378:Itih2
|
UTSW |
2 |
10,099,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R2893:Itih2
|
UTSW |
2 |
10,107,008 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3732:Itih2
|
UTSW |
2 |
10,110,481 (GRCm39) |
missense |
probably benign |
0.00 |
R3732:Itih2
|
UTSW |
2 |
10,110,481 (GRCm39) |
missense |
probably benign |
0.00 |
R3733:Itih2
|
UTSW |
2 |
10,110,481 (GRCm39) |
missense |
probably benign |
0.00 |
R4195:Itih2
|
UTSW |
2 |
10,120,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Itih2
|
UTSW |
2 |
10,111,548 (GRCm39) |
nonsense |
probably null |
|
R4585:Itih2
|
UTSW |
2 |
10,115,211 (GRCm39) |
missense |
probably benign |
0.00 |
R4586:Itih2
|
UTSW |
2 |
10,115,211 (GRCm39) |
missense |
probably benign |
0.00 |
R4610:Itih2
|
UTSW |
2 |
10,109,971 (GRCm39) |
missense |
probably damaging |
0.96 |
R5311:Itih2
|
UTSW |
2 |
10,115,346 (GRCm39) |
missense |
probably benign |
0.01 |
R5361:Itih2
|
UTSW |
2 |
10,101,272 (GRCm39) |
missense |
probably benign |
0.09 |
R5436:Itih2
|
UTSW |
2 |
10,110,007 (GRCm39) |
missense |
probably benign |
0.00 |
R5454:Itih2
|
UTSW |
2 |
10,102,804 (GRCm39) |
missense |
probably null |
0.00 |
R5580:Itih2
|
UTSW |
2 |
10,128,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R5621:Itih2
|
UTSW |
2 |
10,107,616 (GRCm39) |
missense |
probably benign |
0.00 |
R5846:Itih2
|
UTSW |
2 |
10,102,714 (GRCm39) |
missense |
probably benign |
0.00 |
R6083:Itih2
|
UTSW |
2 |
10,113,705 (GRCm39) |
intron |
probably benign |
|
R6190:Itih2
|
UTSW |
2 |
10,103,318 (GRCm39) |
missense |
probably benign |
0.37 |
R6198:Itih2
|
UTSW |
2 |
10,103,352 (GRCm39) |
missense |
probably benign |
0.00 |
R6469:Itih2
|
UTSW |
2 |
10,128,224 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6816:Itih2
|
UTSW |
2 |
10,110,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R6820:Itih2
|
UTSW |
2 |
10,102,909 (GRCm39) |
missense |
probably benign |
0.00 |
R6853:Itih2
|
UTSW |
2 |
10,120,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Itih2
|
UTSW |
2 |
10,110,574 (GRCm39) |
missense |
probably benign |
0.27 |
R7173:Itih2
|
UTSW |
2 |
10,109,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Itih2
|
UTSW |
2 |
10,135,319 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8065:Itih2
|
UTSW |
2 |
10,128,294 (GRCm39) |
missense |
probably damaging |
0.99 |
R8067:Itih2
|
UTSW |
2 |
10,128,294 (GRCm39) |
missense |
probably damaging |
0.99 |
R8110:Itih2
|
UTSW |
2 |
10,101,948 (GRCm39) |
missense |
probably damaging |
0.98 |
R8721:Itih2
|
UTSW |
2 |
10,111,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Itih2
|
UTSW |
2 |
10,103,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Itih2
|
UTSW |
2 |
10,102,780 (GRCm39) |
missense |
probably benign |
0.03 |
R8868:Itih2
|
UTSW |
2 |
10,132,600 (GRCm39) |
missense |
probably benign |
0.10 |
R8919:Itih2
|
UTSW |
2 |
10,102,822 (GRCm39) |
nonsense |
probably null |
|
R9287:Itih2
|
UTSW |
2 |
10,128,297 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9496:Itih2
|
UTSW |
2 |
10,106,984 (GRCm39) |
missense |
probably benign |
0.01 |
R9657:Itih2
|
UTSW |
2 |
10,107,686 (GRCm39) |
missense |
probably damaging |
0.99 |
RF012:Itih2
|
UTSW |
2 |
10,122,214 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGCAGAGATGCACCAC -3'
(R):5'- GATATCTGCTACATATTGAGAAGCC -3'
Sequencing Primer
(F):5'- GAGATGCACCACGCCTTC -3'
(R):5'- CACAACTACTTCGGAGGTT -3'
|
Posted On |
2020-01-23 |