Incidental Mutation 'R5311:Itih2'
ID |
404827 |
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 |
042894-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R5311 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10115346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 342
(D342G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000155809]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042290
AA Change: D342G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000046530 Gene: ENSMUSG00000037254 AA Change: D342G
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: D342G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000124636 Gene: ENSMUSG00000037254 AA Change: D342G
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5z1 |
A |
G |
5: 142,453,442 (GRCm39) |
K137E |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,429,923 (GRCm39) |
V371G |
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 29,068,987 (GRCm39) |
Y247H |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,917,556 (GRCm39) |
V927A |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Edar |
G |
A |
10: 58,443,257 (GRCm39) |
P290S |
possibly damaging |
Het |
Ext2 |
T |
C |
2: 93,526,606 (GRCm39) |
I677V |
probably benign |
Het |
Fam53a |
A |
G |
5: 33,765,080 (GRCm39) |
S209P |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,318,441 (GRCm39) |
|
probably null |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Gm14295 |
A |
T |
2: 176,502,465 (GRCm39) |
I652L |
probably benign |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
T |
A |
11: 48,779,716 (GRCm39) |
E402V |
probably damaging |
Het |
Gm6899 |
GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC |
GGAGGCCGCCCAGTGGCAGAGGC |
11: 26,543,725 (GRCm39) |
|
probably null |
Het |
Lgi2 |
A |
T |
5: 52,711,827 (GRCm39) |
D164E |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,050,448 (GRCm39) |
I768T |
probably damaging |
Het |
Map1a |
C |
A |
2: 121,132,868 (GRCm39) |
A990E |
probably damaging |
Het |
Mdh1b |
A |
G |
1: 63,759,163 (GRCm39) |
V143A |
probably benign |
Het |
Mrgprb3 |
C |
T |
7: 48,293,059 (GRCm39) |
C164Y |
probably damaging |
Het |
Mtpap |
T |
A |
18: 4,386,328 (GRCm39) |
V316E |
probably damaging |
Het |
Mybpc3 |
T |
A |
2: 90,959,023 (GRCm39) |
C655* |
probably null |
Het |
Myh15 |
A |
G |
16: 48,986,204 (GRCm39) |
E1558G |
possibly damaging |
Het |
Mylk |
A |
G |
16: 34,742,127 (GRCm39) |
T880A |
probably benign |
Het |
Nckap1 |
T |
A |
2: 80,370,466 (GRCm39) |
D408V |
probably damaging |
Het |
Nos3 |
A |
T |
5: 24,582,343 (GRCm39) |
H605L |
probably benign |
Het |
Nrxn2 |
C |
A |
19: 6,581,428 (GRCm39) |
D411E |
probably benign |
Het |
Or1af1 |
T |
C |
2: 37,109,633 (GRCm39) |
V44A |
probably benign |
Het |
Or8j3b |
T |
A |
2: 86,205,094 (GRCm39) |
I221L |
possibly damaging |
Het |
Pde4d |
C |
A |
13: 109,769,398 (GRCm39) |
P29T |
probably benign |
Het |
Pde4d |
C |
T |
13: 109,769,399 (GRCm39) |
P29L |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,636,094 (GRCm39) |
V412A |
possibly damaging |
Het |
Rev1 |
T |
A |
1: 38,118,474 (GRCm39) |
I480L |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,708 (GRCm39) |
T711A |
probably benign |
Het |
RP23-191E1.1 |
T |
A |
3: 106,204,784 (GRCm39) |
|
noncoding transcript |
Het |
Serpina11 |
A |
T |
12: 103,952,221 (GRCm39) |
I183N |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,921,236 (GRCm39) |
H645R |
probably damaging |
Het |
Skint7 |
G |
A |
4: 111,837,501 (GRCm39) |
R93H |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,894,910 (GRCm39) |
E632G |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Trps1 |
G |
A |
15: 50,528,156 (GRCm39) |
T658I |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,438,691 (GRCm39) |
T287A |
probably damaging |
Het |
Ugt2b35 |
G |
A |
5: 87,159,139 (GRCm39) |
W444* |
probably null |
Het |
Vmn1r219 |
T |
A |
13: 23,347,063 (GRCm39) |
V84D |
probably damaging |
Het |
Vmn2r10 |
T |
C |
5: 109,154,121 (GRCm39) |
Y61C |
probably damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,250,163 (GRCm39) |
P703S |
probably damaging |
Het |
Wdsub1 |
T |
A |
2: 59,708,873 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
G |
7: 6,308,715 (GRCm39) |
Q461R |
probably benign |
Het |
Zfp941 |
C |
A |
7: 140,391,872 (GRCm39) |
G496* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACACTACACTCAGCAGGG -3'
(R):5'- TTGACTATCTCTGATTGACAGTCC -3'
Sequencing Primer
(F):5'- GCTATGAGTCTTGTGAGAACCTAGAC -3'
(R):5'- CTTGGAGGATAAATGGGGC -3'
|
Posted On |
2016-07-22 |