Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Itih3'

715809

Institutional Source

Beutler Lab

Gene Symbol

Itih3

Ensembl Gene

ENSMUSG00000006522

Gene Name

inter-alpha trypsin inhibitor, heavy chain 3

Synonyms

Itih-3, Intin3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30630529-30645717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30631416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 827 (S827P)

Ref Sequence

ENSEMBL: ENSMUSP00000006697 (fasta)

Gene Model

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

AlphaFold

Q61704

Predicted Effect

probably benign
Transcript: ENSMUST00000006697
AA Change: S827P

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: S827P

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

probably benign
Transcript: ENSMUST00000226547

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227995
AA Change: S637P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000228114

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Abcb4	A	T	5: 8,977,790 (GRCm39)	D456V	probably damaging	Het
Abcc8	T	C	7: 45,819,270 (GRCm39)	E186G	possibly damaging	Het
Adam18	T	C	8: 25,115,807 (GRCm39)	N629S	probably benign	Het
Angpt2	T	G	8: 18,764,143 (GRCm39)	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,697,396 (GRCm39)	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,320,289 (GRCm39)	S151T	unknown	Het
Ap3d1	G	A	10: 80,545,655 (GRCm39)	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,808,948 (GRCm39)	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,611,524 (GRCm39)	T425S	probably damaging	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Ces1b	T	A	8: 93,799,890 (GRCm39)	N162I	probably damaging	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,350,080 (GRCm39)	I266M	probably damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csmd1	T	A	8: 15,981,215 (GRCm39)		probably null	Het
Cul9	G	A	17: 46,821,833 (GRCm39)	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,957,707 (GRCm39)	H896R	probably damaging	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Dock6	G	A	9: 21,724,821 (GRCm39)	L1515F	probably damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gm44501	T	A	17: 40,889,820 (GRCm39)	H111Q	possibly damaging	Het
Gsdmc	T	C	15: 63,650,551 (GRCm39)	M277V	probably benign	Het
Hira	A	G	16: 18,772,789 (GRCm39)	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,337,704 (GRCm39)	V137G	probably damaging	Het
Nrbp2	T	C	15: 75,961,626 (GRCm39)	N218S	probably damaging	Het
Nrip1	T	C	16: 76,089,820 (GRCm39)	N579S	probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Or6c5	A	G	10: 129,074,656 (GRCm39)	I213V	probably damaging	Het
Or7g28	A	T	9: 19,272,383 (GRCm39)	D89E	probably benign	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Oscar	T	A	7: 3,614,843 (GRCm39)	H43L	probably benign	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,096,706 (GRCm39)	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,681,448 (GRCm39)	P613L	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rest	T	A	5: 77,416,098 (GRCm39)	M104K	probably damaging	Het
Rfc1	A	G	5: 65,437,142 (GRCm39)	S513P	probably damaging	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,863,467 (GRCm39)	D205G	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Vcan	G	T	13: 89,851,531 (GRCm39)	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,593 (GRCm39)	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp869	A	T	8: 70,159,849 (GRCm39)	C241*	probably null	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
R6379:Itih3	UTSW	14	30,631,681 (GRCm39)	missense	probably damaging	1.00
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
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'- TGACTAGGAGGGCCAAAACC -3'
(R):5'- CGAATAGATGCGCAACAAGC -3'

Sequencing Primer
(F):5'- GCCAAAACCTCAAAAAGAAATAAGGG -3'
(R):5'- TAGATGCGCAACAAGCCACTTAG -3'

Posted On

2022-06-15