Incidental Mutation 'R0316:Itih2'
ID |
34161 |
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 |
038526-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R0316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 10110057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 565
(Q565H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000155809]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042290
AA Change: Q565H
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046530 Gene: ENSMUSG00000037254 AA Change: Q565H
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.2%
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,888,765 (GRCm39) |
F276I |
probably damaging |
Het |
Ado |
A |
G |
10: 67,384,548 (GRCm39) |
L19P |
possibly damaging |
Het |
Ago2 |
T |
C |
15: 73,002,725 (GRCm39) |
H169R |
probably damaging |
Het |
Asic1 |
G |
A |
15: 99,569,819 (GRCm39) |
A47T |
probably benign |
Het |
Atg16l2 |
A |
T |
7: 100,942,603 (GRCm39) |
I364N |
probably damaging |
Het |
C130050O18Rik |
G |
A |
5: 139,400,313 (GRCm39) |
R122Q |
probably damaging |
Het |
Capn7 |
T |
A |
14: 31,069,766 (GRCm39) |
C197S |
probably benign |
Het |
Casp16 |
T |
C |
17: 23,771,066 (GRCm39) |
D113G |
probably damaging |
Het |
Cdh18 |
T |
A |
15: 23,366,999 (GRCm39) |
V235D |
probably damaging |
Het |
Clca4a |
G |
T |
3: 144,659,525 (GRCm39) |
T777K |
probably damaging |
Het |
Col17a1 |
A |
G |
19: 47,673,972 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
A |
9: 20,686,621 (GRCm39) |
D1335Y |
unknown |
Het |
Cpxm1 |
T |
C |
2: 130,235,091 (GRCm39) |
E576G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,253,808 (GRCm39) |
S182P |
probably damaging |
Het |
Dclk1 |
C |
T |
3: 55,410,313 (GRCm39) |
S616L |
probably damaging |
Het |
Dll4 |
C |
A |
2: 119,161,634 (GRCm39) |
D405E |
probably damaging |
Het |
Dnah1 |
G |
A |
14: 31,000,108 (GRCm39) |
R2462C |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,564,882 (GRCm39) |
Y2594N |
possibly damaging |
Het |
Ess2 |
G |
A |
16: 17,727,958 (GRCm39) |
P103S |
probably benign |
Het |
Fam110a |
C |
A |
2: 151,812,006 (GRCm39) |
A255S |
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,246,397 (GRCm39) |
R502W |
probably damaging |
Het |
Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
Gm1527 |
T |
C |
3: 28,969,923 (GRCm39) |
S342P |
probably damaging |
Het |
Gm19668 |
A |
T |
10: 77,634,564 (GRCm39) |
|
probably benign |
Het |
Gm5901 |
A |
T |
7: 105,026,522 (GRCm39) |
T97S |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,547,420 (GRCm39) |
Y1546C |
probably damaging |
Het |
Impg1 |
A |
T |
9: 80,249,347 (GRCm39) |
S619T |
probably damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,464 (GRCm39) |
N386K |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,652,934 (GRCm39) |
M218T |
probably benign |
Het |
Lipg |
T |
C |
18: 75,094,012 (GRCm39) |
S12G |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mex3d |
G |
T |
10: 80,217,505 (GRCm39) |
P571T |
probably damaging |
Het |
Neb |
A |
C |
2: 52,085,482 (GRCm39) |
Y1538D |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,361,584 (GRCm39) |
I184T |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or5b99 |
T |
A |
19: 12,976,766 (GRCm39) |
C139S |
probably damaging |
Het |
Or5w18 |
T |
C |
2: 87,633,525 (GRCm39) |
F264S |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,185,149 (GRCm39) |
|
silent |
Het |
Pdcd11 |
T |
C |
19: 47,101,611 (GRCm39) |
V932A |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,625,032 (GRCm39) |
D276G |
probably damaging |
Het |
Pkia |
T |
A |
3: 7,502,499 (GRCm39) |
D25E |
probably damaging |
Het |
Plxna2 |
A |
C |
1: 194,326,458 (GRCm39) |
S131R |
probably damaging |
Het |
Prelid1 |
T |
C |
13: 55,472,220 (GRCm39) |
V132A |
possibly damaging |
Het |
Psma3 |
T |
C |
12: 71,030,163 (GRCm39) |
Y59H |
probably benign |
Het |
Ptchd3 |
A |
C |
11: 121,732,916 (GRCm39) |
E602A |
possibly damaging |
Het |
Ptpro |
T |
C |
6: 137,353,987 (GRCm39) |
V121A |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 161,449,239 (GRCm39) |
L878P |
probably damaging |
Het |
Pxn |
G |
A |
5: 115,692,027 (GRCm39) |
G370S |
probably damaging |
Het |
Rcn2 |
G |
T |
9: 55,949,453 (GRCm39) |
A40S |
probably benign |
Het |
Rnf215 |
A |
G |
11: 4,089,760 (GRCm39) |
N258D |
probably damaging |
Het |
Rnpc3 |
T |
C |
3: 113,423,622 (GRCm39) |
T28A |
probably damaging |
Het |
Rtel1 |
T |
A |
2: 180,997,795 (GRCm39) |
V1100E |
possibly damaging |
Het |
Scn3a |
T |
A |
2: 65,291,173 (GRCm39) |
I1858F |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,400,595 (GRCm39) |
R735Q |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,929,788 (GRCm39) |
T449A |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,072,737 (GRCm39) |
W2191R |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,948,055 (GRCm39) |
R405H |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,948,137 (GRCm39) |
Y859H |
possibly damaging |
Het |
Tonsl |
A |
G |
15: 76,513,500 (GRCm39) |
S1245P |
possibly damaging |
Het |
Tpcn1 |
G |
A |
5: 120,677,324 (GRCm39) |
T661M |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,863,424 (GRCm39) |
F533L |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
Vax2 |
T |
C |
6: 83,688,426 (GRCm39) |
S50P |
possibly damaging |
Het |
Vmn1r5 |
A |
C |
6: 56,962,784 (GRCm39) |
E153A |
probably benign |
Het |
Vmn2r14 |
G |
T |
5: 109,366,762 (GRCm39) |
P486Q |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,802,827 (GRCm39) |
F246I |
probably damaging |
Het |
Zc3h10 |
C |
A |
10: 128,380,624 (GRCm39) |
E244D |
probably damaging |
Het |
Zdhhc18 |
T |
A |
4: 133,340,966 (GRCm39) |
K265* |
probably null |
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 |
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 |
R8021:Itih2
|
UTSW |
2 |
10,110,463 (GRCm39) |
missense |
probably benign |
|
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'- ACTCAGCTTTCATTAGAGTGCTGTGAAC -3'
(R):5'- AGCCTATCCAGTCAAGGCTCTCTTC -3'
Sequencing Primer
(F):5'- gctttcatgctaagctacatcc -3'
(R):5'- AGTCAAGGCTCTCTTCCTTGTATAAC -3'
|
Posted On |
2013-05-09 |