Incidental Mutation 'R6957:Itih4'
ID |
541538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itih4
|
Ensembl Gene |
ENSMUSG00000021922 |
Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
Synonyms |
Itih-4 |
MMRRC Submission |
045068-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6957 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30614560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 474
(V474A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
AlphaFold |
A6X935 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006703
AA Change: V474A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006703 Gene: ENSMUSG00000021922 AA Change: V474A
Domain | Start | End | E-Value | Type |
VIT
|
19 |
148 |
3.22e-80 |
SMART |
VWA
|
272 |
456 |
5.97e-30 |
SMART |
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
Pfam:ITI_HC_C
|
781 |
941 |
2e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078490
AA Change: V474A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077580 Gene: ENSMUSG00000021922 AA Change: V474A
Domain | Start | End | E-Value | Type |
VIT
|
19 |
148 |
3.22e-80 |
SMART |
VWA
|
272 |
456 |
5.97e-30 |
SMART |
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
Pfam:ITI_HC_C
|
777 |
941 |
2.2e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120269
AA Change: V474A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112798 Gene: ENSMUSG00000021922 AA Change: V474A
Domain | Start | End | E-Value | Type |
VIT
|
19 |
148 |
3.22e-80 |
SMART |
VWA
|
272 |
456 |
5.97e-30 |
SMART |
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
Pfam:ITI_HC_C
|
738 |
902 |
6.5e-46 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168782
AA Change: V474A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125920 Gene: ENSMUSG00000021922 AA Change: V474A
Domain | Start | End | E-Value | Type |
VIT
|
19 |
148 |
3.22e-80 |
SMART |
VWA
|
272 |
456 |
5.97e-30 |
SMART |
coiled coil region
|
552 |
584 |
N/A |
INTRINSIC |
low complexity region
|
662 |
690 |
N/A |
INTRINSIC |
Pfam:ITI_HC_C
|
761 |
925 |
2.2e-45 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors with diverse functions as anti-apoptotic and matrix stabilizing molecules during development. This gene is predominantly expressed in the liver and the encoded protein was found to be a plasma kallikrein-sensitive glycoprotein. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
A |
G |
1: 138,779,857 (GRCm39) |
S132P |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,871,270 (GRCm39) |
F710L |
probably damaging |
Het |
Acsm4 |
T |
G |
7: 119,310,622 (GRCm39) |
V503G |
probably damaging |
Het |
Adam26a |
T |
A |
8: 44,021,940 (GRCm39) |
M517L |
probably benign |
Het |
Adcy10 |
C |
A |
1: 165,391,854 (GRCm39) |
L1345I |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,715,609 (GRCm39) |
I860V |
probably benign |
Het |
Alcam |
T |
C |
16: 52,097,257 (GRCm39) |
D333G |
probably damaging |
Het |
Amt |
C |
A |
9: 108,177,032 (GRCm39) |
F213L |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,604,278 (GRCm39) |
T1333A |
probably damaging |
Het |
Asxl3 |
C |
A |
18: 22,655,148 (GRCm39) |
L1053I |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,220,699 (GRCm39) |
S12P |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,030,017 (GRCm39) |
I333V |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,486 (GRCm39) |
I577V |
probably benign |
Het |
Cadm2 |
A |
T |
16: 66,609,726 (GRCm39) |
F132I |
probably benign |
Het |
Casp3 |
T |
A |
8: 47,087,308 (GRCm39) |
V85D |
probably damaging |
Het |
Ccdc168 |
C |
T |
1: 44,096,367 (GRCm39) |
C1577Y |
probably benign |
Het |
Ccdc85a |
A |
T |
11: 28,342,944 (GRCm39) |
|
probably benign |
Het |
Cd22 |
T |
C |
7: 30,566,999 (GRCm39) |
R760G |
possibly damaging |
Het |
Cela3a |
A |
T |
4: 137,135,441 (GRCm39) |
W41R |
probably damaging |
Het |
Cep164 |
A |
G |
9: 45,683,578 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Ddx20 |
C |
A |
3: 105,591,626 (GRCm39) |
K181N |
probably benign |
Het |
Dnah14 |
G |
C |
1: 181,612,740 (GRCm39) |
A3846P |
possibly damaging |
Het |
Ern1 |
A |
C |
11: 106,294,365 (GRCm39) |
I813S |
probably damaging |
Het |
Fam181a |
G |
A |
12: 103,282,773 (GRCm39) |
G226D |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,844,357 (GRCm39) |
D629V |
unknown |
Het |
Gipr |
T |
A |
7: 18,898,529 (GRCm39) |
T26S |
probably benign |
Het |
Gm3159 |
A |
G |
14: 4,398,530 (GRCm38) |
R74G |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,558,786 (GRCm39) |
V1814I |
probably benign |
Het |
Hacd1 |
A |
T |
2: 14,049,664 (GRCm39) |
V98E |
probably damaging |
Het |
Iars1 |
T |
G |
13: 49,875,637 (GRCm39) |
F775V |
probably damaging |
Het |
Il12rb2 |
G |
A |
6: 67,269,636 (GRCm39) |
L726F |
possibly damaging |
Het |
Kmt2a |
A |
C |
9: 44,731,319 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,904,810 (GRCm39) |
L196* |
probably null |
Het |
Lipo4 |
A |
G |
19: 33,476,767 (GRCm39) |
V327A |
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,694,934 (GRCm39) |
T271A |
probably benign |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrp4 |
C |
A |
2: 91,317,387 (GRCm39) |
T837K |
probably damaging |
Het |
Mad1l1 |
G |
T |
5: 140,051,572 (GRCm39) |
F664L |
probably damaging |
Het |
Mecr |
A |
G |
4: 131,589,172 (GRCm39) |
T247A |
probably benign |
Het |
Msi1 |
G |
A |
5: 115,583,483 (GRCm39) |
A228T |
probably benign |
Het |
Mup5 |
T |
A |
4: 61,751,273 (GRCm39) |
N125I |
probably damaging |
Het |
Mybl2 |
C |
T |
2: 162,914,728 (GRCm39) |
S282F |
possibly damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nalcn |
T |
C |
14: 123,744,966 (GRCm39) |
D354G |
probably damaging |
Het |
Nckap1l |
T |
C |
15: 103,399,938 (GRCm39) |
V1040A |
possibly damaging |
Het |
Nlrp12 |
T |
A |
7: 3,271,160 (GRCm39) |
D1051V |
probably damaging |
Het |
Nudt7 |
A |
G |
8: 114,860,385 (GRCm39) |
K16R |
probably benign |
Het |
Or4b1 |
G |
T |
2: 89,979,494 (GRCm39) |
Y285* |
probably null |
Het |
Or8g29-ps1 |
A |
G |
9: 39,200,577 (GRCm39) |
V203A |
unknown |
Het |
Paqr3 |
A |
T |
5: 97,256,110 (GRCm39) |
I88K |
possibly damaging |
Het |
Parp9 |
A |
G |
16: 35,768,716 (GRCm39) |
M299V |
probably benign |
Het |
Pde4dip |
A |
T |
3: 97,731,649 (GRCm39) |
|
probably null |
Het |
Pex13 |
T |
G |
11: 23,605,628 (GRCm39) |
M201L |
probably benign |
Het |
Pfas |
C |
A |
11: 68,884,709 (GRCm39) |
V498L |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Plec |
T |
A |
15: 76,070,414 (GRCm39) |
D932V |
probably damaging |
Het |
Qng1 |
C |
A |
13: 58,529,775 (GRCm39) |
C279F |
probably damaging |
Het |
Qsox2 |
C |
T |
2: 26,107,654 (GRCm39) |
A445T |
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,623,710 (GRCm39) |
Q820K |
possibly damaging |
Het |
Samd13 |
A |
G |
3: 146,368,424 (GRCm39) |
|
probably null |
Het |
Samm50 |
G |
T |
15: 84,082,850 (GRCm39) |
D104Y |
probably damaging |
Het |
Sbk3 |
A |
T |
7: 4,970,522 (GRCm39) |
F282L |
probably benign |
Het |
Sfmbt1 |
C |
T |
14: 30,509,546 (GRCm39) |
H342Y |
probably benign |
Het |
Sgo2b |
CCATCATCATCATCATCATCAT |
CCATCATCATCATCATCAT |
8: 64,384,489 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,043,344 (GRCm39) |
L596* |
probably null |
Het |
Spata31h1 |
A |
T |
10: 82,129,620 (GRCm39) |
I1130K |
probably benign |
Het |
St8sia3 |
T |
C |
18: 64,404,853 (GRCm39) |
S377P |
probably benign |
Het |
Stmnd1 |
T |
G |
13: 46,427,375 (GRCm39) |
S28A |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,920,561 (GRCm39) |
L458Q |
probably damaging |
Het |
Synm |
C |
T |
7: 67,385,848 (GRCm39) |
V163I |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,028,686 (GRCm39) |
C161R |
probably damaging |
Het |
Tnfrsf4 |
G |
A |
4: 156,100,625 (GRCm39) |
V215I |
probably benign |
Het |
Vars2 |
T |
G |
17: 35,977,967 (GRCm39) |
K67Q |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,304,753 (GRCm39) |
Y559* |
probably null |
Het |
Wdpcp |
T |
C |
11: 21,671,154 (GRCm39) |
I465T |
possibly damaging |
Het |
Zwilch |
A |
C |
9: 64,069,844 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Itih4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Itih4
|
APN |
14 |
30,617,426 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00776:Itih4
|
APN |
14 |
30,611,561 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01309:Itih4
|
APN |
14 |
30,613,706 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01433:Itih4
|
APN |
14 |
30,617,405 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01598:Itih4
|
APN |
14 |
30,609,774 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02332:Itih4
|
APN |
14 |
30,609,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03075:Itih4
|
APN |
14 |
30,614,240 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03304:Itih4
|
APN |
14 |
30,620,006 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03353:Itih4
|
APN |
14 |
30,609,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03396:Itih4
|
APN |
14 |
30,609,906 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Itih4
|
UTSW |
14 |
30,623,127 (GRCm39) |
missense |
probably benign |
0.29 |
R0304:Itih4
|
UTSW |
14 |
30,612,051 (GRCm39) |
splice site |
probably null |
|
R0477:Itih4
|
UTSW |
14 |
30,611,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R0783:Itih4
|
UTSW |
14 |
30,617,380 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0882:Itih4
|
UTSW |
14 |
30,614,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Itih4
|
UTSW |
14 |
30,618,124 (GRCm39) |
splice site |
probably benign |
|
R1126:Itih4
|
UTSW |
14 |
30,611,918 (GRCm39) |
critical splice donor site |
probably null |
|
R1238:Itih4
|
UTSW |
14 |
30,609,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1456:Itih4
|
UTSW |
14 |
30,614,610 (GRCm39) |
missense |
probably benign |
0.31 |
R1573:Itih4
|
UTSW |
14 |
30,619,504 (GRCm39) |
missense |
probably benign |
0.00 |
R1695:Itih4
|
UTSW |
14 |
30,613,456 (GRCm39) |
critical splice donor site |
probably null |
|
R2085:Itih4
|
UTSW |
14 |
30,614,280 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2093:Itih4
|
UTSW |
14 |
30,613,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R2213:Itih4
|
UTSW |
14 |
30,612,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R2249:Itih4
|
UTSW |
14 |
30,621,351 (GRCm39) |
nonsense |
probably null |
|
R2267:Itih4
|
UTSW |
14 |
30,614,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R2268:Itih4
|
UTSW |
14 |
30,614,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Itih4
|
UTSW |
14 |
30,617,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R3724:Itih4
|
UTSW |
14 |
30,614,541 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3859:Itih4
|
UTSW |
14 |
30,614,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R4042:Itih4
|
UTSW |
14 |
30,616,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4044:Itih4
|
UTSW |
14 |
30,616,995 (GRCm39) |
missense |
probably damaging |
1.00 |
R4246:Itih4
|
UTSW |
14 |
30,613,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R4422:Itih4
|
UTSW |
14 |
30,611,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R4553:Itih4
|
UTSW |
14 |
30,622,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R4581:Itih4
|
UTSW |
14 |
30,622,925 (GRCm39) |
missense |
probably benign |
0.01 |
R4608:Itih4
|
UTSW |
14 |
30,623,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4609:Itih4
|
UTSW |
14 |
30,623,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Itih4
|
UTSW |
14 |
30,611,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Itih4
|
UTSW |
14 |
30,611,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R4975:Itih4
|
UTSW |
14 |
30,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Itih4
|
UTSW |
14 |
30,614,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Itih4
|
UTSW |
14 |
30,612,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6014:Itih4
|
UTSW |
14 |
30,614,586 (GRCm39) |
missense |
probably benign |
0.01 |
R7012:Itih4
|
UTSW |
14 |
30,612,706 (GRCm39) |
missense |
probably benign |
0.16 |
R7075:Itih4
|
UTSW |
14 |
30,614,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7195:Itih4
|
UTSW |
14 |
30,621,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Itih4
|
UTSW |
14 |
30,618,571 (GRCm39) |
missense |
probably benign |
0.17 |
R7509:Itih4
|
UTSW |
14 |
30,617,404 (GRCm39) |
missense |
probably benign |
0.08 |
R7819:Itih4
|
UTSW |
14 |
30,623,620 (GRCm39) |
missense |
probably benign |
0.00 |
R7967:Itih4
|
UTSW |
14 |
30,614,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R8084:Itih4
|
UTSW |
14 |
30,621,400 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8257:Itih4
|
UTSW |
14 |
30,609,825 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8534:Itih4
|
UTSW |
14 |
30,622,979 (GRCm39) |
missense |
probably benign |
0.13 |
R8797:Itih4
|
UTSW |
14 |
30,618,529 (GRCm39) |
missense |
probably benign |
0.00 |
R8886:Itih4
|
UTSW |
14 |
30,617,482 (GRCm39) |
nonsense |
probably null |
|
R9006:Itih4
|
UTSW |
14 |
30,612,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Itih4
|
UTSW |
14 |
30,618,650 (GRCm39) |
missense |
probably benign |
0.00 |
R9377:Itih4
|
UTSW |
14 |
30,608,533 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Itih4
|
UTSW |
14 |
30,621,419 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGATTCAGACTCTGCACTGC -3'
(R):5'- CAAATACGAAGGCTGTCCAGG -3'
Sequencing Primer
(F):5'- TGCACTGCAGCTTCAGGTAC -3'
(R):5'- TACTCCAGGCTACTCCAGG -3'
|
Posted On |
2018-11-28 |