Incidental Mutation 'R8110:Itih2'
| ID |
630782 |
| 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 |
067539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R8110 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
10099408-10135492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10101948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 845
(F845L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042290]
[ENSMUST00000042512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042290
AA Change: F845L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: F845L
| 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: ENSMUST00000042512
|
| SMART Domains |
Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
26 |
50 |
2.35e1 |
SMART |
|
Kin17_mid
|
52 |
178 |
5.41e-89 |
SMART |
|
low complexity region
|
209 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
300 |
N/A |
INTRINSIC |
|
KOW
|
334 |
361 |
1.97e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.1%
|
| Validation Efficiency |
99% (73/74) |
| 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 |
|---|
| Ankrd45 |
T |
C |
1: 160,978,889 (GRCm39) |
|
probably null |
Het |
| Appl1 |
C |
A |
14: 26,649,751 (GRCm39) |
G592* |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,720,464 (GRCm39) |
M1501K |
probably benign |
Het |
| Calcrl |
C |
T |
2: 84,169,683 (GRCm39) |
A333T |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,771,835 (GRCm39) |
I33N |
probably benign |
Het |
| Ceacam15 |
A |
G |
7: 16,407,334 (GRCm39) |
L61P |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,632,515 (GRCm39) |
H827L |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,303 (GRCm39) |
T426I |
probably damaging |
Het |
| Eefsec |
A |
C |
6: 88,353,312 (GRCm39) |
I119S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,550 (GRCm39) |
N570S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,491,095 (GRCm39) |
M461T |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,290,620 (GRCm39) |
Y95H |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,789,017 (GRCm39) |
I346T |
probably benign |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Gabbr1 |
G |
C |
17: 37,359,475 (GRCm39) |
S150T |
probably benign |
Het |
| Galnt9 |
G |
T |
5: 110,763,339 (GRCm39) |
W448L |
probably damaging |
Het |
| Gcnt2 |
G |
T |
13: 41,071,198 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,012 (GRCm39) |
Y2633C |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,266 (GRCm39) |
I214V |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,809,445 (GRCm39) |
E217V |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,568,540 (GRCm39) |
L606H |
probably damaging |
Het |
| Krt6b |
G |
A |
15: 101,588,577 (GRCm39) |
R28C |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,866,866 (GRCm39) |
D2876V |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,279 (GRCm39) |
S397P |
probably damaging |
Het |
| Lmf2 |
C |
T |
15: 89,236,561 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,336,797 (GRCm39) |
I1325T |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,850,676 (GRCm39) |
C879* |
probably null |
Het |
| Map3k1 |
A |
G |
13: 111,891,847 (GRCm39) |
V1136A |
probably damaging |
Het |
| Mettl3 |
G |
T |
14: 52,537,709 (GRCm39) |
H84N |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,873 (GRCm39) |
|
probably null |
Het |
| Mlip |
G |
T |
9: 77,146,861 (GRCm39) |
T92K |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,702,113 (GRCm39) |
Y466F |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,201,698 (GRCm39) |
L235* |
probably null |
Het |
| Nbn |
T |
C |
4: 15,981,588 (GRCm39) |
V560A |
probably benign |
Het |
| Ncln |
A |
T |
10: 81,328,987 (GRCm39) |
Y144N |
possibly damaging |
Het |
| Nfe2l2 |
A |
C |
2: 75,509,765 (GRCm39) |
D18E |
probably benign |
Het |
| Or10aa3 |
G |
A |
1: 173,878,091 (GRCm39) |
A51T |
probably benign |
Het |
| Or12d2 |
A |
G |
17: 37,624,604 (GRCm39) |
F224L |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,721 (GRCm39) |
C197R |
possibly damaging |
Het |
| Or5w11 |
T |
C |
2: 87,458,951 (GRCm39) |
I48T |
possibly damaging |
Het |
| Otop3 |
A |
T |
11: 115,230,221 (GRCm39) |
M33L |
probably benign |
Het |
| Pate7 |
T |
C |
9: 35,689,329 (GRCm39) |
*84W |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,953,422 (GRCm39) |
I387T |
possibly damaging |
Het |
| Prb1c |
C |
T |
6: 132,338,531 (GRCm39) |
G229D |
unknown |
Het |
| Prdm9 |
T |
A |
17: 15,774,960 (GRCm39) |
N318Y |
probably damaging |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Prune2 |
G |
A |
19: 17,098,083 (GRCm39) |
G1196S |
probably benign |
Het |
| Psd3 |
T |
A |
8: 68,573,708 (GRCm39) |
S158C |
probably damaging |
Het |
| Rps18 |
A |
G |
17: 34,174,110 (GRCm39) |
V15A |
probably benign |
Het |
| Sanbr |
G |
T |
11: 23,526,764 (GRCm39) |
T696N |
probably benign |
Het |
| Sharpin |
C |
A |
15: 76,231,965 (GRCm39) |
R271L |
possibly damaging |
Het |
| Smad5 |
C |
A |
13: 56,871,701 (GRCm39) |
Q99K |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,200 (GRCm39) |
M151V |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,492 (GRCm39) |
F419Y |
possibly damaging |
Het |
| Tbx20 |
T |
A |
9: 24,636,821 (GRCm39) |
Y422F |
probably damaging |
Het |
| Tcirg1 |
A |
C |
19: 3,949,099 (GRCm39) |
F397V |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,197,012 (GRCm39) |
S35F |
possibly damaging |
Het |
| Tsen54 |
G |
T |
11: 115,705,760 (GRCm39) |
A26S |
unknown |
Het |
| Usp50 |
T |
A |
2: 126,622,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,709 (GRCm39) |
F757I |
probably benign |
Het |
| Zbbx |
T |
C |
3: 75,062,749 (GRCm39) |
T3A |
possibly damaging |
Het |
| Zfp28 |
T |
A |
7: 6,392,828 (GRCm39) |
M168K |
probably benign |
Het |
| Zfp568 |
G |
T |
7: 29,722,551 (GRCm39) |
G499W |
probably damaging |
Het |
| Zfp7 |
C |
G |
15: 76,775,131 (GRCm39) |
P391R |
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 |
|
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 |
|
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'- AAGCCATCCTGTCACGCTAG -3'
(R):5'- ACCGTTTTAGACAGCCCAC -3'
Sequencing Primer
(F):5'- GTCACGCTAGGCTCTCTGC -3'
(R):5'- GTTTTAGACAGCCCACATGCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation