Incidental Mutation 'R9657:Itih2'
| ID |
727361 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R9657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10107686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 627
(T627A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042290
AA Change: T627A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: T627A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,243,379 (GRCm39) |
D1747E |
probably benign |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,478 (GRCm39) |
E724G |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,599 (GRCm39) |
S63P |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,134,023 (GRCm39) |
S9G |
probably benign |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,104 (GRCm39) |
T283A |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,715 (GRCm39) |
D488G |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,351,003 (GRCm39) |
E688G |
possibly damaging |
Het |
| Cldn10 |
A |
C |
14: 119,025,781 (GRCm39) |
E71D |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,386,979 (GRCm39) |
D337G |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,410,089 (GRCm39) |
D3654V |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,339,429 (GRCm39) |
S100P |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,405,978 (GRCm39) |
V488A |
unknown |
Het |
| Katnip |
A |
G |
7: 125,441,956 (GRCm39) |
S648G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,117 (GRCm39) |
D144G |
probably benign |
Het |
| Lca5l |
G |
A |
16: 95,974,953 (GRCm39) |
Q324* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,921,806 (GRCm39) |
T542A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,128,485 (GRCm39) |
V179E |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,467,229 (GRCm39) |
R133* |
probably null |
Het |
| Nol3 |
A |
T |
8: 106,005,641 (GRCm39) |
I12F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,352,377 (GRCm39) |
V605A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,524,121 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or9m2 |
A |
C |
2: 87,821,310 (GRCm39) |
N285T |
probably damaging |
Het |
| Pag1 |
G |
T |
3: 9,769,791 (GRCm39) |
S52R |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,056 (GRCm39) |
D525G |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,138 (GRCm39) |
F437L |
probably benign |
Het |
| Podn |
A |
C |
4: 107,884,231 (GRCm39) |
I86S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,290,820 (GRCm39) |
T676A |
probably benign |
Het |
| Ppp1r1c |
A |
G |
2: 79,638,718 (GRCm39) |
E104G |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,486,238 (GRCm39) |
T436A |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,788,980 (GRCm39) |
E1127D |
probably benign |
Het |
| Ptpn18 |
C |
A |
1: 34,512,473 (GRCm39) |
A426E |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,042,377 (GRCm39) |
C2044G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,581,372 (GRCm39) |
V850L |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,557,155 (GRCm39) |
I28T |
unknown |
Het |
| Rapgef2 |
A |
T |
3: 78,999,191 (GRCm39) |
V527E |
probably damaging |
Het |
| Rere |
C |
A |
4: 150,699,390 (GRCm39) |
P825T |
unknown |
Het |
| Rundc3a |
A |
G |
11: 102,291,578 (GRCm39) |
T349A |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,566,032 (GRCm39) |
F1352S |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,295 (GRCm39) |
C206* |
probably null |
Het |
| Serac1 |
C |
T |
17: 6,119,658 (GRCm39) |
V91I |
probably benign |
Het |
| Serpina1f |
G |
A |
12: 103,656,050 (GRCm39) |
Q393* |
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,955,244 (GRCm39) |
E598G |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,013 (GRCm39) |
H518Q |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,910,781 (GRCm39) |
R1199C |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,214,312 (GRCm39) |
S104P |
possibly damaging |
Het |
| Tbck |
A |
G |
3: 132,421,451 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdrd9 |
A |
C |
12: 112,002,824 (GRCm39) |
R824S |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,260 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
A |
3: 19,728,671 (GRCm39) |
G494D |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,237,010 (GRCm39) |
M1L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt3a1 |
A |
C |
15: 9,280,133 (GRCm39) |
S32R |
probably damaging |
Het |
| Vgll3 |
T |
C |
16: 65,636,343 (GRCm39) |
S220P |
probably benign |
Het |
| Virma |
A |
G |
4: 11,544,898 (GRCm39) |
E1569G |
probably damaging |
Het |
| Vmn1r54 |
C |
G |
6: 90,246,984 (GRCm39) |
F299L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,690 (GRCm39) |
S597P |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,057,918 (GRCm39) |
D1249G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,245,476 (GRCm39) |
Y1271C |
|
Het |
| Yju2b |
T |
C |
8: 84,987,084 (GRCm39) |
K138E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,568,068 (GRCm39) |
Y108C |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,766 (GRCm39) |
V101A |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,729 (GRCm39) |
C451S |
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 |
|
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 |
|
RF012:Itih2
|
UTSW |
2 |
10,122,214 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTACGGACACAGGTGG -3'
(R):5'- TTAGGCATCCCCACTCTGTG -3'
Sequencing Primer
(F):5'- CACAGGTGGAAGCAAAAAGTGGATG -3'
(R):5'- CCACTCTGTGCTCAGGTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation