Incidental Mutation 'R5911:Itih4'
| ID |
461023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
044108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30612612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 213
(I213V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006703
AA Change: I213V
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: I213V
| 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: I213V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: I213V
| 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 |
possibly damaging
Transcript: ENSMUST00000120269
AA Change: I213V
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: I213V
| 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 |
possibly damaging
Transcript: ENSMUST00000168782
AA Change: I213V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: I213V
| 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 |
0.1430 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
92% (77/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
C |
T |
3: 124,350,380 (GRCm39) |
|
probably benign |
Het |
| Acacb |
A |
T |
5: 114,370,951 (GRCm39) |
D1731V |
probably damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,226,778 (GRCm39) |
V563I |
possibly damaging |
Het |
| Ak7 |
A |
G |
12: 105,692,471 (GRCm39) |
E175G |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,747 (GRCm39) |
T602S |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,001,591 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
G |
T |
10: 4,508,551 (GRCm39) |
E592* |
probably null |
Het |
| Clasp1 |
C |
A |
1: 118,434,638 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
T |
A |
13: 95,568,564 (GRCm39) |
M291L |
probably benign |
Het |
| Cyp3a41b |
T |
A |
5: 145,519,349 (GRCm39) |
L47F |
probably benign |
Het |
| Dgcr6 |
A |
G |
16: 17,884,598 (GRCm39) |
D82G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,754 (GRCm39) |
E592G |
probably damaging |
Het |
| Dtl |
G |
A |
1: 191,300,519 (GRCm39) |
T115I |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,457,510 (GRCm39) |
Y338C |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,897 (GRCm39) |
D198G |
probably damaging |
Het |
| Ereg |
A |
C |
5: 91,222,552 (GRCm39) |
|
probably benign |
Het |
| Esp31 |
G |
C |
17: 38,951,933 (GRCm39) |
|
probably null |
Het |
| Faap100 |
T |
C |
11: 120,267,958 (GRCm39) |
I272V |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,328,560 (GRCm39) |
D109G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,339,299 (GRCm39) |
M51L |
probably benign |
Het |
| Fcnb |
A |
T |
2: 27,966,701 (GRCm39) |
N277K |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,009,325 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,373,932 (GRCm39) |
F289S |
possibly damaging |
Het |
| Grik4 |
C |
A |
9: 42,502,720 (GRCm39) |
V468F |
probably damaging |
Het |
| Gtdc1 |
T |
A |
2: 44,642,076 (GRCm39) |
R168S |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,699,440 (GRCm39) |
G610R |
probably damaging |
Het |
| Gulp1 |
A |
T |
1: 44,793,534 (GRCm39) |
Q65L |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,849,035 (GRCm39) |
D356E |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,157,737 (GRCm39) |
|
probably benign |
Het |
| Igkv13-57-2 |
T |
C |
6: 69,500,971 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr2 |
T |
C |
6: 146,214,441 (GRCm39) |
K1469E |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,445,674 (GRCm39) |
T292A |
probably damaging |
Het |
| Jrk |
T |
C |
15: 74,577,617 (GRCm39) |
D556G |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,663,905 (GRCm39) |
I345F |
probably benign |
Het |
| Klhdc1 |
A |
G |
12: 69,303,025 (GRCm39) |
E187G |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,779,833 (GRCm39) |
Y111H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,229 (GRCm39) |
V319D |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,156,092 (GRCm39) |
L553P |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,351 (GRCm39) |
I225F |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,915 (GRCm39) |
H172L |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,027 (GRCm39) |
V101I |
probably benign |
Het |
| Or5e1 |
T |
A |
7: 108,354,882 (GRCm39) |
I273N |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,605 (GRCm39) |
T243S |
probably damaging |
Het |
| Or7g26 |
T |
C |
9: 19,230,445 (GRCm39) |
I205T |
probably benign |
Het |
| Pelp1 |
C |
T |
11: 70,287,740 (GRCm39) |
R394H |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,109,817 (GRCm39) |
|
probably null |
Het |
| Prr5 |
C |
A |
15: 84,585,635 (GRCm39) |
S201* |
probably null |
Het |
| Rad23b |
T |
A |
4: 55,370,474 (GRCm39) |
|
probably null |
Het |
| Rasgef1a |
T |
A |
6: 118,061,335 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,738,832 (GRCm39) |
I565N |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,945,600 (GRCm39) |
N527S |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,235,812 (GRCm39) |
N49Y |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,694,058 (GRCm39) |
S571T |
probably benign |
Het |
| Spdye4c |
C |
T |
2: 128,437,994 (GRCm39) |
R245* |
probably null |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,926,454 (GRCm39) |
D480V |
probably benign |
Het |
| Thpo |
T |
A |
16: 20,547,546 (GRCm39) |
S22C |
probably null |
Het |
| Top2a |
T |
A |
11: 98,907,291 (GRCm39) |
T180S |
possibly damaging |
Het |
| Trim37 |
T |
A |
11: 87,087,663 (GRCm39) |
Y34* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,361 (GRCm39) |
E1254G |
possibly damaging |
Het |
| Ttc39a |
C |
T |
4: 109,280,168 (GRCm39) |
P150L |
possibly damaging |
Het |
| Ttc4 |
T |
C |
4: 106,525,240 (GRCm39) |
D298G |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,386,482 (GRCm39) |
V41A |
probably benign |
Het |
| Vmn1r20 |
C |
A |
6: 57,408,774 (GRCm39) |
H33Q |
probably benign |
Het |
| Zan |
A |
T |
5: 137,456,174 (GRCm39) |
Y1329N |
unknown |
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 |
|
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'- TACACGTACCGAATGCATGC -3'
(R):5'- TTCTGTCTGAGCCAACCCCTAG -3'
Sequencing Primer
(F):5'- GTACCGAATGCATGCTGTCAC -3'
(R):5'- AACCCTCACGCTTAGACGTGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation