Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Itih3'

515224

Institutional Source

Beutler Lab

Gene Symbol

Itih3

Ensembl Gene

ENSMUSG00000006522

Gene Name

inter-alpha trypsin inhibitor, heavy chain 3

Synonyms

Itih-3, Intin3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30630529-30645717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30631681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 802 (S802L)

Ref Sequence

ENSEMBL: ENSMUSP00000006697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000226547] [ENSMUST00000227995] [ENSMUST00000228114]

AlphaFold

Q61704

Predicted Effect

probably damaging
Transcript: ENSMUST00000006697
AA Change: S802L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: S802L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
VIT	29	158	3.87e-83	SMART
VWA	282	466	1.19e-29	SMART
Blast:VWA	571	634	2e-21	BLAST
Pfam:ITI_HC_C	683	870	3e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226179

Predicted Effect

probably benign
Transcript: ENSMUST00000226547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227995
AA Change: S612L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000228114

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes one of the heavy subunits of inter alpha trypsin inhibitor that functions as a protease inhibitor circulating in the plasma. The encoded protein undergoes proteolytic processing to generate a mature glycoprotein that is linked to the other subunits via an ester bond between the C-terminal aspartic acid residue and the N-acetyl galactosamine residue of chondroitin sulfate. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	T	2: 152,269,912 (GRCm39)	R21S	probably benign	Het
Aadacl4fm1	G	T	4: 144,248,912 (GRCm39)	R93L	probably benign	Het
Adcy5	A	T	16: 35,114,369 (GRCm39)	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,566,214 (GRCm39)		probably null	Het
Anxa1	T	C	19: 20,351,079 (GRCm39)	*347W	probably null	Het
Aopep	T	A	13: 63,216,057 (GRCm39)	I443K	probably damaging	Het
Arid1a	G	T	4: 133,408,238 (GRCm39)	L2090I	unknown	Het
Armh3	A	T	19: 45,910,136 (GRCm39)	V472D	possibly damaging	Het
Bambi	T	A	18: 3,512,198 (GRCm39)	L194Q	probably damaging	Het
Card9	A	G	2: 26,246,789 (GRCm39)	V353A	probably damaging	Het
Ccdc198	T	A	14: 49,481,191 (GRCm39)	I99F	probably benign	Het
Ccdc60	C	A	5: 116,269,082 (GRCm39)		probably null	Het
Ccdc71	A	G	9: 108,340,811 (GRCm39)	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,743 (GRCm39)	V254A	probably benign	Het
Cep295nl	T	A	11: 118,224,556 (GRCm39)	N96I	probably benign	Het
Ces1f	C	A	8: 94,006,279 (GRCm39)	C17F	probably benign	Het
Clic6	C	A	16: 92,336,423 (GRCm39)	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996 (GRCm39)	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,844 (GRCm39)	S73Y	probably damaging	Het
Daam1	C	T	12: 71,998,712 (GRCm39)	L556F	unknown	Het
Dchs2	A	C	3: 83,262,453 (GRCm39)	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,128,767 (GRCm39)	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,935,317 (GRCm39)		probably null	Het
Draxin	C	A	4: 148,192,400 (GRCm39)	C304F	probably damaging	Het
Eif3j1	A	G	2: 121,878,005 (GRCm39)	D131G	possibly damaging	Het
Fads1	T	C	19: 10,160,551 (GRCm39)	Y46H	probably damaging	Het
Fcgbpl1	A	C	7: 27,857,017 (GRCm39)	T2122P	probably damaging	Het
Figla	T	A	6: 85,995,562 (GRCm39)	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,581,468 (GRCm39)	S174T	probably benign	Het
Foxn3	C	A	12: 99,162,537 (GRCm39)	A455S	probably benign	Het
Fyn	C	T	10: 39,331,070 (GRCm39)		probably benign	Het
Gtse1	G	A	15: 85,748,425 (GRCm39)	G277S	probably benign	Het
H2bc15	T	A	13: 21,938,588 (GRCm39)	V99E	probably benign	Het
Icam4	C	A	9: 20,941,078 (GRCm39)	A110E	probably damaging	Het
Kcng4	T	A	8: 120,360,359 (GRCm39)	R6*	probably null	Het
Kmt2c	A	T	5: 25,564,339 (GRCm39)	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,960,675 (GRCm39)	M362L	probably benign	Het
Mtus2	T	C	5: 148,014,008 (GRCm39)	I267T	probably benign	Het
Nab1	A	G	1: 52,520,156 (GRCm39)	V275A	probably damaging	Het
Nfasc	G	A	1: 132,498,280 (GRCm39)	Q1308*	probably null	Het
Nop9	T	C	14: 55,983,249 (GRCm39)	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,987,438 (GRCm39)	N25K	probably benign	Het
Nptx2	T	C	5: 144,490,252 (GRCm39)	L227P	probably damaging	Het
Nrg1	T	C	8: 33,373,749 (GRCm39)		probably benign	Het
Nup160	T	A	2: 90,532,753 (GRCm39)	C571*	probably null	Het
Nynrin	T	C	14: 56,107,848 (GRCm39)	L985P	probably damaging	Het
Obsl1	A	C	1: 75,479,787 (GRCm39)	L341R	probably damaging	Het
Or1r1	T	G	11: 73,875,099 (GRCm39)	S112R	probably damaging	Het
Pate7	T	A	9: 35,689,381 (GRCm39)		probably benign	Het
Phip	G	T	9: 82,795,910 (GRCm39)	N570K	probably damaging	Het
Pigx	A	T	16: 31,903,341 (GRCm39)	I240N	probably damaging	Het
Platr25	T	C	13: 62,854,051 (GRCm39)	D37G	probably damaging	Het
Ppl	A	T	16: 4,915,555 (GRCm39)	M639K	probably benign	Het
Scnn1b	T	G	7: 121,514,551 (GRCm39)	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,326,143 (GRCm39)	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,531,469 (GRCm39)	V132D	probably damaging	Het
Slc38a7	A	G	8: 96,575,155 (GRCm39)	S42P	probably benign	Het
Slc66a1	G	A	4: 139,027,296 (GRCm39)	L349F	probably benign	Het
Srp68	A	G	11: 116,156,227 (GRCm39)	C172R	probably damaging	Het
Suz12	A	T	11: 79,906,014 (GRCm39)	D292V	possibly damaging	Het
Sv2b	A	T	7: 74,786,048 (GRCm39)	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,634,773 (GRCm39)	V285A	probably benign	Het
Tdo2	T	A	3: 81,866,102 (GRCm39)		probably benign	Het
Them7	G	T	2: 105,115,031 (GRCm39)		probably null	Het
Tnip2	T	C	5: 34,660,979 (GRCm39)	T158A	probably damaging	Het
Tonsl	C	T	15: 76,513,942 (GRCm39)	R1209H	probably benign	Het
Trpc2	T	A	7: 101,745,298 (GRCm39)	L838*	probably null	Het
Trpm1	A	G	7: 63,848,942 (GRCm39)	I63V	probably benign	Het
Vps13d	A	T	4: 144,814,828 (GRCm39)	N90K	probably benign	Het
Ylpm1	C	T	12: 85,077,574 (GRCm39)	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,275,141 (GRCm39)	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,311,795 (GRCm39)	T300S	probably benign	Het
Zscan2	T	A	7: 80,513,085 (GRCm39)	D23E	probably benign	Het

Other mutations in Itih3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Itih3	APN	14	30,631,738 (GRCm39)	missense	probably damaging	0.98
IGL01359:Itih3	APN	14	30,639,729 (GRCm39)	missense	probably damaging	1.00
IGL01965:Itih3	APN	14	30,637,677 (GRCm39)	missense	probably damaging	0.99
IGL02435:Itih3	APN	14	30,637,711 (GRCm39)	missense	probably damaging	0.99
IGL02539:Itih3	APN	14	30,634,621 (GRCm39)	missense	probably benign	0.03
IGL02637:Itih3	APN	14	30,637,617 (GRCm39)	missense	probably benign	0.00
IGL02958:Itih3	APN	14	30,635,139 (GRCm39)	missense	probably benign	0.00
IGL03253:Itih3	APN	14	30,633,880 (GRCm39)	critical splice donor site	probably null
K2124:Itih3	UTSW	14	30,634,644 (GRCm39)	missense	probably benign	0.40
R0321:Itih3	UTSW	14	30,634,063 (GRCm39)	missense	probably damaging	0.99
R0466:Itih3	UTSW	14	30,634,831 (GRCm39)	critical splice donor site	probably null
R1402:Itih3	UTSW	14	30,630,665 (GRCm39)	missense	probably damaging	1.00
R1402:Itih3	UTSW	14	30,630,665 (GRCm39)	missense	probably damaging	1.00
R1633:Itih3	UTSW	14	30,639,355 (GRCm39)	missense	possibly damaging	0.46
R1982:Itih3	UTSW	14	30,645,540 (GRCm39)	unclassified	probably benign
R2056:Itih3	UTSW	14	30,631,481 (GRCm39)	splice site	probably null
R2077:Itih3	UTSW	14	30,631,792 (GRCm39)	missense	possibly damaging	0.91
R2417:Itih3	UTSW	14	30,639,621 (GRCm39)	missense	probably benign	0.04
R3624:Itih3	UTSW	14	30,636,700 (GRCm39)	missense	probably damaging	1.00
R3794:Itih3	UTSW	14	30,640,351 (GRCm39)	missense	probably damaging	1.00
R4676:Itih3	UTSW	14	30,643,643 (GRCm39)	missense	possibly damaging	0.91
R4676:Itih3	UTSW	14	30,640,906 (GRCm39)	missense	probably null	1.00
R5198:Itih3	UTSW	14	30,634,606 (GRCm39)	missense	probably benign	0.07
R5429:Itih3	UTSW	14	30,645,478 (GRCm39)	missense	probably benign	0.00
R6740:Itih3	UTSW	14	30,634,644 (GRCm39)	missense	probably benign	0.40
R6752:Itih3	UTSW	14	30,645,446 (GRCm39)	missense	possibly damaging	0.76
R6765:Itih3	UTSW	14	30,631,430 (GRCm39)	missense	probably benign
R6785:Itih3	UTSW	14	30,634,572 (GRCm39)	critical splice donor site	probably null
R6871:Itih3	UTSW	14	30,634,644 (GRCm39)	missense	probably benign	0.40
R6935:Itih3	UTSW	14	30,634,659 (GRCm39)	missense	possibly damaging	0.82
R7133:Itih3	UTSW	14	30,639,655 (GRCm39)	missense	probably damaging	1.00
R7419:Itih3	UTSW	14	30,636,730 (GRCm39)	missense	probably benign	0.41
R7592:Itih3	UTSW	14	30,630,722 (GRCm39)	missense	probably damaging	0.98
R7598:Itih3	UTSW	14	30,639,334 (GRCm39)	missense	possibly damaging	0.95
R7662:Itih3	UTSW	14	30,639,287 (GRCm39)	missense	probably benign	0.00
R8183:Itih3	UTSW	14	30,631,433 (GRCm39)	missense	probably benign
R8682:Itih3	UTSW	14	30,642,673 (GRCm39)	missense	possibly damaging	0.81
R8723:Itih3	UTSW	14	30,630,761 (GRCm39)	missense	probably damaging	1.00
R8794:Itih3	UTSW	14	30,634,854 (GRCm39)	missense	possibly damaging	0.71
R8892:Itih3	UTSW	14	30,637,635 (GRCm39)	missense	probably benign
R9358:Itih3	UTSW	14	30,643,885 (GRCm39)	nonsense	probably null
R9399:Itih3	UTSW	14	30,643,335 (GRCm39)	missense	probably benign	0.37
R9476:Itih3	UTSW	14	30,631,416 (GRCm39)	missense	probably benign	0.14
R9510:Itih3	UTSW	14	30,631,416 (GRCm39)	missense	probably benign	0.14
R9649:Itih3	UTSW	14	30,637,605 (GRCm39)	missense	possibly damaging	0.92
R9690:Itih3	UTSW	14	30,640,264 (GRCm39)	missense	probably benign
R9709:Itih3	UTSW	14	30,637,587 (GRCm39)	critical splice donor site	probably null
R9749:Itih3	UTSW	14	30,641,279 (GRCm39)	missense	probably damaging	1.00
Y5408:Itih3	UTSW	14	30,643,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGAGCCTCTGTCTGTTG -3'
(R):5'- GATTGTTAATGCCACGGCCG -3'

Sequencing Primer
(F):5'- AGCCTCTGTCTGTTGCCAGG -3'
(R):5'- CCTCCCTGCCTAGGCCTC -3'

Posted On

2018-05-04