Incidental Mutation 'R6198:Itih2'
ID |
503014 |
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 |
044338-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R6198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10103352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 712
(Y712H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042290
AA Change: Y712H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000046530 Gene: ENSMUSG00000037254 AA Change: Y712H
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (68/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,210,499 (GRCm39) |
|
probably null |
Het |
2610318N02Rik |
A |
G |
16: 16,936,233 (GRCm39) |
S164P |
probably damaging |
Het |
Acsbg3 |
A |
G |
17: 57,189,679 (GRCm39) |
S265G |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
A |
C |
11: 46,012,329 (GRCm39) |
N275T |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,597,556 (GRCm39) |
T84S |
possibly damaging |
Het |
Asl |
C |
T |
5: 130,047,757 (GRCm39) |
V70I |
probably benign |
Het |
Atp2c1 |
A |
G |
9: 105,398,271 (GRCm39) |
S26P |
probably benign |
Het |
Bcas3 |
A |
T |
11: 85,400,261 (GRCm39) |
D410V |
probably damaging |
Het |
Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
Ccdc15 |
A |
C |
9: 37,225,581 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
G |
1: 140,033,178 (GRCm39) |
S789P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
Cnst |
A |
G |
1: 179,420,430 (GRCm39) |
Q187R |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,177,273 (GRCm39) |
T422A |
probably benign |
Het |
Cyp2c55 |
A |
T |
19: 38,995,565 (GRCm39) |
R26* |
probably null |
Het |
Dgkb |
A |
T |
12: 38,223,822 (GRCm39) |
M414L |
probably benign |
Het |
Dgkd |
A |
G |
1: 87,851,930 (GRCm39) |
D444G |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,525,710 (GRCm39) |
K215E |
probably damaging |
Het |
Dnmt3c |
T |
C |
2: 153,561,929 (GRCm39) |
V544A |
noncoding transcript |
Het |
Dus3l |
A |
T |
17: 57,074,858 (GRCm39) |
T327S |
possibly damaging |
Het |
Elf2 |
A |
T |
3: 51,184,670 (GRCm39) |
L5Q |
probably damaging |
Het |
Fxyd6 |
A |
G |
9: 45,301,968 (GRCm39) |
Y30C |
probably damaging |
Het |
Gcc2 |
A |
T |
10: 58,128,412 (GRCm39) |
T1375S |
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,556 (GRCm39) |
Y393* |
probably null |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
T |
C |
16: 36,713,757 (GRCm39) |
L246P |
probably damaging |
Het |
Grp |
G |
T |
18: 66,013,057 (GRCm39) |
Q74H |
possibly damaging |
Het |
Ifi203 |
A |
T |
1: 173,751,648 (GRCm39) |
M391K |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,415,958 (GRCm39) |
V1626E |
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,833 (GRCm39) |
Y331C |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,731,994 (GRCm39) |
Y352F |
probably damaging |
Het |
Lama2 |
G |
T |
10: 27,064,018 (GRCm39) |
H1286Q |
probably damaging |
Het |
Lgi4 |
T |
A |
7: 30,768,547 (GRCm39) |
|
probably null |
Het |
Lrrc47 |
A |
T |
4: 154,100,129 (GRCm39) |
N235I |
probably damaging |
Het |
Lrrc74b |
T |
A |
16: 17,366,650 (GRCm39) |
I308F |
probably damaging |
Het |
Map7d1 |
T |
A |
4: 126,135,636 (GRCm39) |
K135M |
probably damaging |
Het |
Marchf5 |
A |
G |
19: 37,188,140 (GRCm39) |
R36G |
probably damaging |
Het |
Mtx3 |
C |
A |
13: 92,989,359 (GRCm39) |
P299Q |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,931,808 (GRCm39) |
|
probably benign |
Het |
Ncapd2 |
C |
A |
6: 125,156,286 (GRCm39) |
E500* |
probably null |
Het |
Nckap5l |
T |
C |
15: 99,323,869 (GRCm39) |
K878R |
probably damaging |
Het |
Nphs1 |
T |
C |
7: 30,167,340 (GRCm39) |
I756T |
probably damaging |
Het |
Olfm4 |
T |
G |
14: 80,237,813 (GRCm39) |
S17A |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,963 (GRCm39) |
M118V |
probably damaging |
Het |
Or4b1 |
A |
T |
2: 89,979,782 (GRCm39) |
D189E |
probably damaging |
Het |
Pak1ip1 |
G |
T |
13: 41,154,886 (GRCm39) |
Q27H |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,290,281 (GRCm39) |
C159* |
probably null |
Het |
Pkn2 |
G |
T |
3: 142,516,165 (GRCm39) |
T538K |
probably benign |
Het |
Ppp3cc |
A |
T |
14: 70,485,060 (GRCm39) |
M198K |
probably benign |
Het |
Rrm1 |
T |
G |
7: 102,095,936 (GRCm39) |
|
probably null |
Het |
Setd3 |
T |
C |
12: 108,131,427 (GRCm39) |
K7E |
possibly damaging |
Het |
Shc1 |
A |
G |
3: 89,329,414 (GRCm39) |
K86R |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,064,084 (GRCm39) |
T418A |
probably benign |
Het |
Spocd1 |
C |
T |
4: 129,849,208 (GRCm39) |
P676S |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,587,374 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
G |
10: 5,252,269 (GRCm39) |
Y2462H |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,464,396 (GRCm39) |
S42P |
probably benign |
Het |
Tmem63b |
C |
T |
17: 45,972,442 (GRCm39) |
V722I |
probably benign |
Het |
Ubqln1 |
A |
G |
13: 58,344,404 (GRCm39) |
S130P |
probably benign |
Het |
Usp34 |
G |
T |
11: 23,434,127 (GRCm39) |
L3215F |
probably damaging |
Het |
Uvssa |
A |
G |
5: 33,566,854 (GRCm39) |
Y517C |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,875,560 (GRCm39) |
F1649Y |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,675,278 (GRCm39) |
S405P |
probably damaging |
Het |
Zfp9 |
T |
C |
6: 118,454,282 (GRCm39) |
M1V |
probably null |
Het |
Zfp946 |
A |
T |
17: 22,673,896 (GRCm39) |
S217C |
probably damaging |
Het |
Zfp970 |
T |
A |
2: 177,167,253 (GRCm39) |
C276S |
probably damaging |
Het |
Zswim5 |
T |
A |
4: 116,735,204 (GRCm39) |
F183Y |
probably benign |
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 |
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'- AGCTATAGTCTATCTAATGGGGTGAG -3'
(R):5'- CTGTGTAGTGTGAGATGAAAGC -3'
Sequencing Primer
(F):5'- CTGATTCTGGGTCAGACA -3'
(R):5'- GATTACAATCTTGCCTTCTGGAG -3'
|
Posted On |
2018-02-27 |