Incidental Mutation 'R2893:Itih2'
| ID |
260647 |
| 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 |
040481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R2893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10107008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 662
(G662D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042290
AA Change: G662D
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: G662D
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
| Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
| Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGAAATTCACACAGGGGTC -3'
(R):5'- CTCAACACCCTGGGTTTGATAC -3'
Sequencing Primer
(F):5'- ATTCACACAGGGGTCTGATG -3'
(R):5'- GGGTTTGATACTTAGCACTGCACAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation