Incidental Mutation 'R4975:Itih4'
| ID |
382596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
042570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30614244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 398
(I398N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006703
AA Change: I398N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: I398N
| 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 |
possibly damaging
Transcript: ENSMUST00000078490
AA Change: I398N
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: I398N
| 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: I398N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: I398N
| 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: I398N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: I398N
| 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 |
|
| Meta Mutation Damage Score |
0.9266 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.8%
|
| Validation Efficiency |
100% (81/81) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
C |
3: 59,840,161 (GRCm39) |
T78P |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,800,291 (GRCm39) |
K497R |
probably damaging |
Het |
| Aldh1a3 |
C |
T |
7: 66,068,927 (GRCm39) |
R19Q |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,234,944 (GRCm39) |
|
probably benign |
Het |
| Ccni |
A |
T |
5: 93,335,553 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Cdkl4 |
C |
A |
17: 80,832,764 (GRCm39) |
G327* |
probably null |
Het |
| Cdsn |
T |
C |
17: 35,866,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,518,736 (GRCm38) |
V240A |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,540 (GRCm39) |
E352G |
possibly damaging |
Het |
| Clasp2 |
T |
A |
9: 113,732,984 (GRCm39) |
I961N |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,949,752 (GRCm39) |
Q128R |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,406,525 (GRCm39) |
Q1055H |
possibly damaging |
Het |
| Cyld |
T |
G |
8: 89,433,860 (GRCm39) |
F216L |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,656,858 (GRCm39) |
M1T |
probably null |
Het |
| Disp3 |
C |
T |
4: 148,328,673 (GRCm39) |
R1097H |
possibly damaging |
Het |
| Dmap1 |
T |
C |
4: 117,538,233 (GRCm39) |
D67G |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Ergic3 |
T |
C |
2: 155,859,638 (GRCm39) |
|
probably null |
Het |
| Fkbp14 |
A |
G |
6: 54,569,943 (GRCm39) |
I29T |
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,623 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7135 |
A |
T |
1: 97,281,801 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbar1 |
TACCAC |
TAC |
1: 74,318,704 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,424,481 (GRCm39) |
I57F |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,809,280 (GRCm39) |
V1722A |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,283,037 (GRCm39) |
D1971G |
possibly damaging |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,226,390 (GRCm39) |
S922R |
probably damaging |
Het |
| Krt27 |
G |
A |
11: 99,237,722 (GRCm39) |
Q339* |
probably null |
Het |
| Lama1 |
C |
A |
17: 68,045,829 (GRCm39) |
L245I |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,806,488 (GRCm39) |
C60* |
probably null |
Het |
| Med16 |
A |
G |
10: 79,738,839 (GRCm39) |
S316P |
possibly damaging |
Het |
| Mia3 |
T |
C |
1: 183,111,970 (GRCm39) |
N529S |
probably benign |
Het |
| Msi2 |
T |
C |
11: 88,285,481 (GRCm39) |
K188E |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,209,128 (GRCm39) |
K1870R |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,167,216 (GRCm39) |
V347A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,120,167 (GRCm39) |
R487H |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,682 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4k41 |
T |
C |
2: 111,280,028 (GRCm39) |
I181T |
probably benign |
Het |
| Or52h1 |
A |
T |
7: 103,828,736 (GRCm39) |
V293D |
probably damaging |
Het |
| Or5d18 |
T |
C |
2: 87,865,005 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,087,141 (GRCm39) |
I246T |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,937,415 (GRCm39) |
V1708A |
probably benign |
Het |
| Ptprv |
A |
G |
1: 135,046,586 (GRCm39) |
|
noncoding transcript |
Het |
| Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,510,497 (GRCm39) |
R68G |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,277,428 (GRCm39) |
D264G |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,165,424 (GRCm39) |
S2045P |
probably damaging |
Het |
| Rgs22 |
A |
C |
15: 36,055,022 (GRCm39) |
Y593* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,285,954 (GRCm39) |
D87N |
probably damaging |
Het |
| Rps6ka4 |
A |
T |
19: 6,817,678 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
A |
18: 89,082,209 (GRCm39) |
|
probably null |
Het |
| Runx3 |
A |
G |
4: 134,898,446 (GRCm39) |
T206A |
probably benign |
Het |
| Setx |
A |
G |
2: 29,054,562 (GRCm39) |
E2158G |
probably damaging |
Het |
| Siglece |
C |
T |
7: 43,308,396 (GRCm39) |
|
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,926,599 (GRCm39) |
S576G |
probably benign |
Het |
| Snx1 |
A |
T |
9: 66,012,187 (GRCm39) |
L96* |
probably null |
Het |
| Srrm1 |
A |
G |
4: 135,074,031 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
A |
T |
2: 68,051,336 (GRCm39) |
|
probably benign |
Het |
| Sun3 |
G |
A |
11: 8,988,311 (GRCm39) |
R4* |
probably null |
Het |
| Svil |
A |
G |
18: 5,054,025 (GRCm39) |
K347E |
possibly damaging |
Het |
| Sybu |
T |
A |
15: 44,541,063 (GRCm39) |
E333V |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,192,520 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
T |
5: 112,483,613 (GRCm39) |
|
probably benign |
Het |
| Tmc1 |
A |
C |
19: 20,884,319 (GRCm39) |
D40E |
probably damaging |
Het |
| Twf2 |
G |
T |
9: 106,089,539 (GRCm39) |
G121W |
probably damaging |
Het |
| Vpreb3 |
A |
G |
10: 75,775,636 (GRCm39) |
V50A |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,285,219 (GRCm39) |
L400Q |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,266,565 (GRCm39) |
Y861F |
probably damaging |
Het |
| Zfp608 |
T |
G |
18: 55,022,962 (GRCm39) |
T1485P |
probably damaging |
Het |
| Zfp619 |
T |
G |
7: 39,186,504 (GRCm39) |
S845A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,899,274 (GRCm39) |
M1K |
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 |
|
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'- TCCTGGGCATGTTAGACGTG -3'
(R):5'- CAAACGGGGTCTGCCTAATG -3'
Sequencing Primer
(F):5'- CATGTTAGACGTGGAGCGAG -3'
(R):5'- GGTCTGCCTAATGGTCTGCAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation