Incidental Mutation 'IGL02698:Itih2'
| ID |
304025 |
| 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: 0.094)
|
| Stock # |
IGL02698
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10135312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 26
(P26H)
|
| 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 damaging
Transcript: ENSMUST00000042290
AA Change: P26H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: P26H
| 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 damaging
Transcript: ENSMUST00000155809
AA Change: P26H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254
AA Change: P26H
| 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 damaging
Transcript: ENSMUST00000161909
AA Change: P26H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124880
Gene: ENSMUSG00000037254
AA Change: P26H
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpp21 |
T |
A |
9: 112,014,812 (GRCm39) |
|
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,598 (GRCm39) |
I186N |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,867,834 (GRCm39) |
S183N |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,212,749 (GRCm39) |
K525* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,243,003 (GRCm39) |
V217A |
probably benign |
Het |
| Cfap36 |
C |
A |
11: 29,197,014 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,909,984 (GRCm39) |
V527A |
probably damaging |
Het |
| Crh |
T |
G |
3: 19,748,354 (GRCm39) |
D96A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcp1a |
A |
T |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,842,663 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
C |
T |
1: 86,976,551 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,406,412 (GRCm39) |
|
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,885 (GRCm39) |
T490A |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,158 (GRCm39) |
T531A |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,476,201 (GRCm39) |
A1749V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,063,624 (GRCm39) |
L761* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,107,112 (GRCm39) |
K683E |
possibly damaging |
Het |
| Gm5117 |
C |
T |
8: 32,229,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hif1a |
T |
C |
12: 73,977,545 (GRCm39) |
|
probably null |
Het |
| Inha |
A |
G |
1: 75,486,527 (GRCm39) |
E274G |
probably damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,283 (GRCm39) |
T620I |
possibly damaging |
Het |
| Klhl30 |
T |
C |
1: 91,281,429 (GRCm39) |
F10S |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,278,118 (GRCm39) |
|
probably benign |
Het |
| Lmf2 |
A |
C |
15: 89,238,357 (GRCm39) |
L174R |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,900,894 (GRCm39) |
L2216P |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,877 (GRCm39) |
L257F |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
G |
1: 132,562,475 (GRCm39) |
V100A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 56,998,172 (GRCm39) |
F535S |
probably damaging |
Het |
| Ntn4 |
G |
T |
10: 93,480,521 (GRCm39) |
A45S |
probably benign |
Het |
| Or2y1c |
T |
A |
11: 49,361,690 (GRCm39) |
F237L |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,815 (GRCm39) |
I43F |
probably damaging |
Het |
| Or52a20 |
T |
C |
7: 103,366,485 (GRCm39) |
V228A |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,584,188 (GRCm39) |
K50* |
probably null |
Het |
| Or8c9 |
A |
G |
9: 38,241,506 (GRCm39) |
T208A |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,257 (GRCm39) |
E592V |
probably damaging |
Het |
| Pate10 |
T |
C |
9: 35,652,416 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,109,032 (GRCm39) |
I1630N |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,199,185 (GRCm39) |
D1997G |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,312 (GRCm39) |
S235T |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,505,746 (GRCm39) |
K283* |
probably null |
Het |
| Scn5a |
T |
A |
9: 119,350,163 (GRCm39) |
T904S |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,495,643 (GRCm39) |
L30P |
possibly damaging |
Het |
| Slc26a7 |
A |
C |
4: 14,593,867 (GRCm39) |
S83A |
possibly damaging |
Het |
| Slco1a6 |
C |
A |
6: 142,048,737 (GRCm39) |
G348* |
probably null |
Het |
| Srgap3 |
C |
T |
6: 112,723,889 (GRCm39) |
V524I |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,688 (GRCm39) |
|
noncoding transcript |
Het |
| Sv2b |
C |
T |
7: 74,790,726 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,779,559 (GRCm39) |
I663T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,775,115 (GRCm39) |
V1976L |
probably damaging |
Het |
| Uqcrc1 |
T |
C |
9: 108,777,011 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
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 |
|
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 |
2015-04-16 |
Incidental Mutation