Incidental Mutation 'R2093:Itih4'
| ID |
231937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2093 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30613694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 304
(L304F)
|
| 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: L304F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: L304F
| 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: L304F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: L304F
| 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: L304F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: L304F
| 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: L304F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: L304F
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,671,041 (GRCm39) |
D421G |
probably benign |
Het |
| Adamts1 |
T |
G |
16: 85,599,333 (GRCm39) |
Q89P |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,297,601 (GRCm39) |
N277T |
possibly damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,295,320 (GRCm39) |
R669* |
probably null |
Het |
| Brip1 |
T |
C |
11: 86,029,971 (GRCm39) |
T558A |
possibly damaging |
Het |
| Cbr2 |
G |
A |
11: 120,621,255 (GRCm39) |
T148I |
probably benign |
Het |
| Ccdc110 |
C |
A |
8: 46,395,114 (GRCm39) |
T335K |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,644,629 (GRCm39) |
D731A |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,501,986 (GRCm39) |
D44G |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,002,237 (GRCm39) |
V23A |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,505,995 (GRCm39) |
H673L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,372,150 (GRCm39) |
A493V |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,299,256 (GRCm39) |
V19E |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,518,858 (GRCm39) |
D418G |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,742 (GRCm39) |
H234L |
probably benign |
Het |
| Drc3 |
C |
T |
11: 60,261,310 (GRCm39) |
R154W |
probably damaging |
Het |
| Drgx |
C |
T |
14: 32,369,112 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,550 (GRCm39) |
S370P |
probably benign |
Het |
| Fdx2 |
T |
C |
9: 20,984,720 (GRCm39) |
H28R |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,553,194 (GRCm39) |
I381V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
C |
5: 96,929,062 (GRCm39) |
L3822P |
probably damaging |
Het |
| Gm3604 |
G |
T |
13: 62,517,420 (GRCm39) |
H313N |
possibly damaging |
Het |
| Heatr4 |
T |
C |
12: 84,021,855 (GRCm39) |
E460G |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,257,151 (GRCm39) |
H834L |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,254,762 (GRCm39) |
C331S |
probably damaging |
Het |
| Klhdc3 |
C |
T |
17: 46,988,879 (GRCm39) |
V104I |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,566,178 (GRCm39) |
E2181G |
unknown |
Het |
| Map2 |
T |
C |
1: 66,438,599 (GRCm39) |
V41A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,017,347 (GRCm39) |
H156Q |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,263 (GRCm39) |
L1669Q |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,835,042 (GRCm39) |
S548F |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,193,202 (GRCm39) |
N408K |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,941 (GRCm39) |
Y177F |
probably benign |
Het |
| Or8k30 |
A |
C |
2: 86,339,587 (GRCm39) |
Q261H |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,626,216 (GRCm39) |
Y1141H |
probably damaging |
Het |
| Pmaip1 |
C |
A |
18: 66,594,052 (GRCm39) |
P64Q |
probably damaging |
Het |
| Ranbp3 |
T |
A |
17: 57,017,145 (GRCm39) |
M387K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,792 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,996,760 (GRCm39) |
S105G |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,434,215 (GRCm39) |
D573E |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,454,893 (GRCm39) |
C159R |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,833,948 (GRCm39) |
Y78C |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,738,438 (GRCm39) |
V432A |
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,224,276 (GRCm39) |
L609P |
probably damaging |
Het |
| Spata21 |
T |
G |
4: 140,824,277 (GRCm39) |
V180G |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,467,794 (GRCm39) |
I451F |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,340,896 (GRCm39) |
C8R |
unknown |
Het |
| Tmprss13 |
A |
G |
9: 45,256,340 (GRCm39) |
R485G |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,773,565 (GRCm39) |
A266T |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,855 (GRCm39) |
T25A |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,702 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r82 |
C |
T |
10: 79,231,813 (GRCm39) |
T604I |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,349,139 (GRCm39) |
T192N |
probably benign |
Het |
| Zfp354a |
C |
T |
11: 50,960,551 (GRCm39) |
T254I |
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 |
|
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 |
|
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'- GCTTCCAGGGACCAAGTTTG -3'
(R):5'- CACTGCATTATTGATGTTGGTCC -3'
Sequencing Primer
(F):5'- TTGGCCCGAAGCGTACACTATG -3'
(R):5'- ACAGACTCAGGGTTGGTCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation