Incidental Mutation 'R7819:Itih4'
| ID |
601777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
045873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7819 (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 30623620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 930
(F930L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006703
AA Change: F890L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: F890L
| 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 benign
Transcript: ENSMUST00000078490
AA Change: F929L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: F929L
| 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 benign
Transcript: ENSMUST00000120269
AA Change: F930L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: F930L
| 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 benign
Transcript: ENSMUST00000168782
AA Change: F913L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: F913L
| 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: 99.7%
- 20x: 99.1%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
C |
G |
6: 52,156,254 (GRCm39) |
|
probably benign |
Het |
| Abcg3 |
T |
C |
5: 105,125,594 (GRCm39) |
T30A |
probably benign |
Het |
| Adra1b |
A |
T |
11: 43,726,194 (GRCm39) |
V241D |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,595,880 (GRCm39) |
N170K |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,559,999 (GRCm39) |
L218P |
probably damaging |
Het |
| Apol8 |
C |
T |
15: 77,633,959 (GRCm39) |
V206M |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,665,263 (GRCm39) |
|
probably null |
Het |
| B3galnt1 |
T |
C |
3: 69,483,108 (GRCm39) |
Y51C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,294,646 (GRCm39) |
V98A |
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,352,805 (GRCm39) |
L209P |
probably damaging |
Het |
| Ccdc96 |
A |
T |
5: 36,643,329 (GRCm39) |
Q445L |
probably damaging |
Het |
| Cdc37 |
A |
G |
9: 21,052,260 (GRCm39) |
S301P |
probably damaging |
Het |
| Cep89 |
A |
T |
7: 35,131,968 (GRCm39) |
H634L |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,765,575 (GRCm39) |
T447S |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,322 (GRCm39) |
|
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,538,008 (GRCm39) |
Y12* |
probably null |
Het |
| Clgn |
A |
T |
8: 84,134,829 (GRCm39) |
I156F |
possibly damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Crb2 |
T |
A |
2: 37,681,603 (GRCm39) |
N815K |
probably benign |
Het |
| Crppa |
A |
G |
12: 36,431,902 (GRCm39) |
T44A |
probably benign |
Het |
| Csgalnact2 |
A |
C |
6: 118,098,050 (GRCm39) |
L97V |
possibly damaging |
Het |
| Ctsh |
T |
A |
9: 89,942,556 (GRCm39) |
M37K |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,058,718 (GRCm39) |
E394G |
probably damaging |
Het |
| Ddx31 |
T |
G |
2: 28,782,463 (GRCm39) |
L602R |
probably damaging |
Het |
| Defb40 |
T |
A |
8: 19,025,050 (GRCm39) |
Y52F |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,126,862 (GRCm39) |
V710A |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,407,419 (GRCm39) |
I150V |
probably benign |
Het |
| Eln |
A |
T |
5: 134,766,035 (GRCm39) |
L56Q |
unknown |
Het |
| Ezh1 |
T |
C |
11: 101,085,740 (GRCm39) |
N639S |
probably damaging |
Het |
| Fzd3 |
A |
G |
14: 65,472,775 (GRCm39) |
F331S |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,251,745 (GRCm39) |
T68A |
possibly damaging |
Het |
| Gltp |
A |
G |
5: 114,812,161 (GRCm39) |
M104T |
probably benign |
Het |
| Gmps |
G |
A |
3: 63,893,048 (GRCm39) |
V118M |
probably damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,229,705 (GRCm39) |
L42P |
probably damaging |
Het |
| Hsfy2 |
T |
A |
1: 56,675,418 (GRCm39) |
H373L |
probably benign |
Het |
| Ica1l |
A |
T |
1: 60,054,953 (GRCm39) |
F93I |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,277 (GRCm39) |
S278P |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,276 (GRCm39) |
G532D |
possibly damaging |
Het |
| Ikbkb |
A |
G |
8: 23,161,742 (GRCm39) |
L382S |
probably benign |
Het |
| Il1rap |
T |
A |
16: 26,541,151 (GRCm39) |
M464K |
possibly damaging |
Het |
| Ing2 |
G |
A |
8: 48,122,063 (GRCm39) |
R162C |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,746,522 (GRCm39) |
L1275H |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,185,837 (GRCm39) |
E55G |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,263,743 (GRCm39) |
T747A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,806,592 (GRCm39) |
E699G |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,811,775 (GRCm39) |
S921P |
probably benign |
Het |
| Lrrc63 |
TGGCGGCGGCGGCGGCGGCGGC |
TGGCGGCGGCGGCGGCGGCGGCGGC |
14: 75,362,661 (GRCm39) |
|
probably benign |
Het |
| Map10 |
TCAGTTGTCCAG |
TCAG |
8: 126,397,260 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
C |
9: 63,265,300 (GRCm39) |
E76G |
probably damaging |
Het |
| Mgat3 |
G |
T |
15: 80,095,973 (GRCm39) |
E267* |
probably null |
Het |
| Nhsl3 |
A |
G |
4: 129,116,276 (GRCm39) |
V841A |
probably benign |
Het |
| Npepps |
C |
A |
11: 97,139,095 (GRCm39) |
G159V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,323,720 (GRCm39) |
V1284A |
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,610 (GRCm39) |
I68F |
probably damaging |
Het |
| Or6c66b |
A |
T |
10: 129,376,562 (GRCm39) |
H52L |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,260,281 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
T |
C |
18: 37,624,308 (GRCm39) |
L546P |
possibly damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,829,633 (GRCm39) |
V694M |
probably damaging |
Het |
| Pde9a |
A |
T |
17: 31,679,174 (GRCm39) |
I255F |
possibly damaging |
Het |
| Pi4k2a |
G |
A |
19: 42,079,013 (GRCm39) |
G25R |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppp1r37 |
A |
G |
7: 19,267,989 (GRCm39) |
I302T |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,622,744 (GRCm39) |
Y311N |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,279,930 (GRCm39) |
D254E |
probably benign |
Het |
| Prmt9 |
T |
C |
8: 78,294,973 (GRCm39) |
V439A |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,346,126 (GRCm39) |
S96P |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,485,914 (GRCm39) |
T182A |
probably benign |
Het |
| Rpusd4 |
A |
G |
9: 35,179,228 (GRCm39) |
S15G |
probably benign |
Het |
| Sco1 |
A |
G |
11: 66,949,219 (GRCm39) |
Y229C |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,417,032 (GRCm39) |
Q1139L |
unknown |
Het |
| Slc16a12 |
A |
G |
19: 34,652,579 (GRCm39) |
V189A |
probably damaging |
Het |
| Slfn8 |
T |
G |
11: 82,895,081 (GRCm39) |
N575T |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,531,465 (GRCm39) |
L2574P |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,891,404 (GRCm39) |
|
probably benign |
Het |
| Tspo2 |
A |
T |
17: 48,756,985 (GRCm39) |
D32E |
probably damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,552 (GRCm39) |
F299L |
probably benign |
Het |
| Xbp1 |
G |
A |
11: 5,474,886 (GRCm39) |
M262I |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,814,632 (GRCm39) |
Q98* |
probably null |
Het |
| Zfp582 |
A |
C |
7: 6,357,165 (GRCm39) |
H326P |
probably damaging |
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 |
|
R6957:Itih4
|
UTSW |
14 |
30,614,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCTTGAATAATCCTTGGGCAACTG -3'
(R):5'- AACTGCCTGGGTTCACACTG -3'
Sequencing Primer
(F):5'- GCAACTGGGCCTTCCTG -3'
(R):5'- GCCCTTCTTTATTTGTAACAAGGGAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation