Incidental Mutation 'IGL01775:Itih2'
| ID |
154080 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itih2
|
| Ensembl Gene |
ENSMUSG00000037254 |
| Gene Name |
inter-alpha trypsin inhibitor, heavy chain 2 |
| Synonyms |
Itih-2, Intin2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL01775
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 10134097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 38
(D38E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000155809]
[ENSMUST00000161909]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042290
AA Change: D38E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: D38E
| 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
AA Change: D38E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254
AA Change: D38E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161909
AA Change: D38E
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124880
Gene: ENSMUSG00000037254
AA Change: D38E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Blast:VIT
|
60 |
81 |
1e-6 |
BLAST |
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
| Ablim3 |
A |
T |
18: 61,949,989 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
| Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
| Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
| Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
| Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
| Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
| Ighm |
A |
T |
12: 113,386,087 (GRCm39) |
C88S |
unknown |
Het |
| Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
| Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,396,791 (GRCm39) |
E899K |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
| Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
| Prkd3 |
G |
T |
17: 79,320,189 (GRCm39) |
T51K |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
| Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,956,250 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation