Incidental Mutation 'R5454:Itih2'
ID |
432650 |
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 |
043018-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R5454 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10102804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 777
(I777V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000042290
AA Change: I777V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000046530 Gene: ENSMUSG00000037254 AA Change: I777V
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 |
|
Meta Mutation Damage Score |
0.0988 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (60/60) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
C |
9: 89,051,041 (GRCm39) |
|
noncoding transcript |
Het |
Ankfy1 |
A |
T |
11: 72,637,757 (GRCm39) |
H483L |
probably benign |
Het |
Ankrd46 |
C |
T |
15: 36,479,447 (GRCm39) |
G215R |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,558,327 (GRCm39) |
I143V |
probably benign |
Het |
Atp2b4 |
C |
A |
1: 133,657,610 (GRCm39) |
V627F |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,947,588 (GRCm39) |
Y855* |
probably null |
Het |
Cd209b |
T |
C |
8: 3,975,396 (GRCm39) |
E88G |
probably damaging |
Het |
Ceacam14 |
T |
G |
7: 17,548,110 (GRCm39) |
W67G |
probably damaging |
Het |
Cope |
T |
C |
8: 70,757,306 (GRCm39) |
V50A |
probably benign |
Het |
Dcaf13 |
C |
A |
15: 38,987,759 (GRCm39) |
D168E |
probably benign |
Het |
Dhcr7 |
T |
G |
7: 143,391,576 (GRCm39) |
M55R |
probably damaging |
Het |
Enpp7 |
A |
T |
11: 118,879,634 (GRCm39) |
Y96F |
probably benign |
Het |
Esco1 |
T |
C |
18: 10,584,327 (GRCm39) |
D60G |
probably benign |
Het |
Fgfr3 |
G |
A |
5: 33,880,642 (GRCm39) |
|
probably benign |
Het |
Frzb |
T |
C |
2: 80,248,259 (GRCm39) |
D280G |
probably damaging |
Het |
Gcat |
A |
G |
15: 78,920,610 (GRCm39) |
I317V |
probably benign |
Het |
Gm13030 |
A |
T |
4: 138,600,820 (GRCm39) |
|
probably benign |
Het |
Gmds |
A |
G |
13: 32,312,024 (GRCm39) |
L135P |
probably damaging |
Het |
Htra2 |
G |
A |
6: 83,030,995 (GRCm39) |
P138L |
probably damaging |
Het |
Il5 |
A |
G |
11: 53,614,626 (GRCm39) |
N89S |
probably damaging |
Het |
Ints3 |
G |
A |
3: 90,315,834 (GRCm39) |
T310M |
possibly damaging |
Het |
Kctd9 |
T |
C |
14: 67,977,836 (GRCm39) |
L382S |
probably damaging |
Het |
Loricrin |
A |
G |
3: 91,988,789 (GRCm39) |
S166P |
unknown |
Het |
Mga |
T |
A |
2: 119,733,810 (GRCm39) |
N219K |
probably damaging |
Het |
Mtmr4 |
A |
T |
11: 87,501,868 (GRCm39) |
R641* |
probably null |
Het |
Muc6 |
C |
T |
7: 141,235,078 (GRCm39) |
A611T |
possibly damaging |
Het |
Obox3-ps8 |
A |
T |
17: 36,763,903 (GRCm39) |
|
noncoding transcript |
Het |
Or5p54 |
A |
T |
7: 107,554,096 (GRCm39) |
M83L |
probably benign |
Het |
Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,899,314 (GRCm39) |
S49T |
possibly damaging |
Het |
Pcdhgc3 |
A |
G |
18: 37,941,549 (GRCm39) |
D650G |
probably damaging |
Het |
Pcmt1 |
A |
G |
10: 7,516,509 (GRCm39) |
V167A |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,225,381 (GRCm39) |
|
probably null |
Het |
Pcx |
G |
T |
19: 4,652,504 (GRCm39) |
V164F |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,102,745 (GRCm39) |
|
probably null |
Het |
Pmch |
A |
G |
10: 87,927,707 (GRCm39) |
E136G |
probably damaging |
Het |
Prkar1a |
A |
G |
11: 109,550,886 (GRCm39) |
D80G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,560,647 (GRCm39) |
|
probably null |
Het |
Slc10a7 |
T |
C |
8: 79,413,253 (GRCm39) |
S171P |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,301,008 (GRCm39) |
M153K |
possibly damaging |
Het |
Srgap2 |
T |
C |
1: 131,217,475 (GRCm39) |
I946V |
probably benign |
Het |
Strbp |
T |
C |
2: 37,535,495 (GRCm39) |
E71G |
probably benign |
Het |
Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
Tnrc18 |
T |
C |
5: 142,757,446 (GRCm39) |
D1025G |
unknown |
Het |
Tnxb |
A |
G |
17: 34,928,599 (GRCm39) |
H2671R |
possibly damaging |
Het |
Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
A |
T |
17: 31,205,439 (GRCm39) |
D649V |
possibly damaging |
Het |
Usp13 |
G |
T |
3: 32,959,585 (GRCm39) |
A559S |
probably damaging |
Het |
Vps45 |
G |
A |
3: 95,926,969 (GRCm39) |
P526L |
probably benign |
Het |
Zfp687 |
A |
G |
3: 94,916,457 (GRCm39) |
V855A |
probably damaging |
Het |
Zfp771 |
T |
A |
7: 126,853,448 (GRCm39) |
C205S |
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 |
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'- TCAGCGTCCTTGTATCTAAAAGGAC -3'
(R):5'- ACATTGTTGACTTGCCAGGC -3'
Sequencing Primer
(F):5'- CCTTGTATCTAAAAGGACGGCTG -3'
(R):5'- GGCTTTATAAATACAAACTGTGGTGC -3'
|
Posted On |
2016-10-06 |