Incidental Mutation 'R8886:Itih4'
| ID |
677349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itih4
|
| Ensembl Gene |
ENSMUSG00000021922 |
| Gene Name |
inter alpha-trypsin inhibitor, heavy chain 4 |
| Synonyms |
Itih-4 |
| MMRRC Submission |
068691-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30608433-30623943 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30617482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 601
(Q601*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006703]
[ENSMUST00000078490]
[ENSMUST00000120269]
[ENSMUST00000168782]
|
| AlphaFold |
A6X935 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006703
AA Change: Q601*
|
| SMART Domains |
Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: Q601*
| 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 null
Transcript: ENSMUST00000078490
AA Change: Q601*
|
| SMART Domains |
Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: Q601*
| 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 null
Transcript: ENSMUST00000120269
AA Change: Q601*
|
| SMART Domains |
Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: Q601*
| 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 null
Transcript: ENSMUST00000168782
AA Change: Q601*
|
| SMART Domains |
Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: Q601*
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| 1700025G04Rik |
T |
A |
1: 151,882,349 (GRCm39) |
N14I |
possibly damaging |
Het |
| 1700066M21Rik |
T |
A |
1: 57,422,008 (GRCm39) |
I128N |
probably damaging |
Het |
| 4930407I10Rik |
G |
T |
15: 81,950,051 (GRCm39) |
S1316I |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,546,420 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,150,928 (GRCm39) |
S1102P |
probably damaging |
Het |
| BC061237 |
A |
C |
14: 44,741,691 (GRCm39) |
I145L |
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,786 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,319,806 (GRCm39) |
G393S |
|
Het |
| Ccdc112 |
C |
T |
18: 46,444,826 (GRCm39) |
G18R |
unknown |
Het |
| Cryzl1 |
T |
A |
16: 91,492,188 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,785 (GRCm39) |
L123* |
probably null |
Het |
| Dmpk |
C |
A |
7: 18,825,886 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,943,840 (GRCm39) |
V1932E |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,200,126 (GRCm39) |
|
probably benign |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,312,862 (GRCm39) |
E336G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,453,628 (GRCm39) |
S305G |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,553,843 (GRCm39) |
I1615F |
probably benign |
Het |
| Gse1 |
G |
A |
8: 121,297,470 (GRCm39) |
R561Q |
unknown |
Het |
| Igkv9-129 |
T |
A |
6: 67,817,221 (GRCm39) |
Y108* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,237,410 (GRCm39) |
T924S |
probably benign |
Het |
| Itgb6 |
A |
T |
2: 60,458,324 (GRCm39) |
C476* |
probably null |
Het |
| Itpk1 |
G |
A |
12: 102,550,604 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,171 (GRCm39) |
E92K |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,869,192 (GRCm39) |
M122K |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,437,221 (GRCm39) |
I314T |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,245,157 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
T |
C |
6: 145,363,152 (GRCm39) |
T270A |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mt2 |
A |
T |
8: 94,899,476 (GRCm39) |
M1L |
probably damaging |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,052,278 (GRCm39) |
I396T |
|
Het |
| Naprt |
T |
C |
15: 75,765,433 (GRCm39) |
T136A |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,966,148 (GRCm39) |
N438S |
probably damaging |
Het |
| Nckap1 |
C |
A |
2: 80,339,055 (GRCm39) |
|
probably null |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nts |
C |
T |
10: 102,320,868 (GRCm39) |
A74T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or8b49 |
T |
G |
9: 38,506,446 (GRCm39) |
F310V |
possibly damaging |
Het |
| Pcp2 |
A |
G |
8: 3,675,208 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,343,734 (GRCm39) |
S752P |
probably benign |
Het |
| Pign |
C |
T |
1: 105,512,779 (GRCm39) |
V635I |
probably benign |
Het |
| Plekhg3 |
C |
A |
12: 76,611,748 (GRCm39) |
H342Q |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,386,466 (GRCm39) |
I177N |
probably damaging |
Het |
| Psmd5 |
A |
G |
2: 34,747,755 (GRCm39) |
F301L |
possibly damaging |
Het |
| Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,801,767 (GRCm39) |
I92L |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,364,264 (GRCm39) |
D4522G |
|
Het |
| Robo3 |
T |
C |
9: 37,328,768 (GRCm39) |
E1276G |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,256,428 (GRCm39) |
F500L |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,276 (GRCm39) |
D353G |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,595,946 (GRCm39) |
|
probably benign |
Het |
| Ski |
A |
T |
4: 155,244,016 (GRCm39) |
L498Q |
probably null |
Het |
| Spocd1 |
T |
A |
4: 129,845,631 (GRCm39) |
M497K |
|
Het |
| Sspo |
A |
G |
6: 48,458,201 (GRCm39) |
E3299G |
possibly damaging |
Het |
| St14 |
C |
A |
9: 31,008,420 (GRCm39) |
V507F |
possibly damaging |
Het |
| Tcf24 |
G |
A |
1: 10,037,388 (GRCm39) |
T108I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,278,359 (GRCm39) |
T1050A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,205,473 (GRCm39) |
D291G |
probably benign |
Het |
| Tubgcp2 |
G |
T |
7: 139,584,882 (GRCm39) |
R518S |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,358 (GRCm39) |
Y222C |
probably damaging |
Het |
| Unc5c |
C |
G |
3: 141,509,581 (GRCm39) |
A687G |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,714 (GRCm39) |
D1103G |
probably damaging |
Het |
| Vmn1r83 |
A |
C |
7: 12,055,843 (GRCm39) |
D71E |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,194,892 (GRCm39) |
I9F |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,862 (GRCm39) |
Q160R |
probably null |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
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 |
|
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 |
|
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'- AGGCTATCTACCAGGTATGCATG -3'
(R):5'- TAGCCCTGGACTCTAACGTG -3'
Sequencing Primer
(F):5'- GCTATCTACCAGGTATGCATGAAGTG -3'
(R):5'- TGGACTCTAACGTGTGCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation