Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Itih3'

671142

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

068723-MU

Accession Numbers

Essential gene?

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

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30630529-30645717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30634854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 639 (S639C)

Ref Sequence

ENSEMBL: ENSMUSP00000006697 (fasta)

Gene Model

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

AlphaFold

Q61704

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006697
AA Change: S639C

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: S639C

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

probably benign
Transcript: ENSMUST00000227995

Predicted Effect

probably benign
Transcript: ENSMUST00000228114

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,939 (GRCm39)	V498D	unknown	Het
Actn1	C	T	12: 80,245,754 (GRCm39)		probably benign	Het
Actrt2	T	C	4: 154,751,176 (GRCm39)	E320G	probably damaging	Het
Adamts7	C	T	9: 90,076,239 (GRCm39)	Q1265*	probably null	Het
Adra1a	A	G	14: 66,875,064 (GRCm39)	N13S	probably benign	Het
Alpk3	G	T	7: 80,707,403 (GRCm39)	R9L	unknown	Het
Ankrd42	A	G	7: 92,263,674 (GRCm39)	F225L	probably benign	Het
C3	T	C	17: 57,528,011 (GRCm39)	E736G	probably benign	Het
Ccng1	A	G	11: 40,644,826 (GRCm39)	S24P	probably benign	Het
Cdc42bpa	A	T	1: 179,894,816 (GRCm39)	N332I	probably damaging	Het
Cep131	G	A	11: 119,972,074 (GRCm39)	P90S	probably benign	Het
Chd8	A	G	14: 52,441,904 (GRCm39)	S2154P	probably damaging	Het
Cilp	A	G	9: 65,186,535 (GRCm39)	S877G	probably benign	Het
Clic6	T	A	16: 92,324,987 (GRCm39)	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,006,773 (GRCm39)	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,145,225 (GRCm39)	I309T	probably benign	Het
Cux2	T	C	5: 122,007,306 (GRCm39)	E785G	probably benign	Het
Cyfip2	A	G	11: 46,144,800 (GRCm39)	F685L	possibly damaging	Het
Epha6	T	C	16: 60,026,035 (GRCm39)	D469G	probably benign	Het
Erc1	A	T	6: 119,607,616 (GRCm39)	V962E	probably damaging	Het
Esrrb	A	T	12: 86,517,038 (GRCm39)	S57C	probably damaging	Het
Fam169a	A	G	13: 97,250,628 (GRCm39)	T320A	possibly damaging	Het
Farsb	C	T	1: 78,401,678 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,338,907 (GRCm39)	V400A	probably damaging	Het
Frem3	A	T	8: 81,342,851 (GRCm39)	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632 (GRCm39)	T786A	probably benign	Het
Gapvd1	A	T	2: 34,594,330 (GRCm39)	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077 (GRCm39)	S737P	probably damaging	Het
Gm525	A	G	11: 88,979,479 (GRCm39)	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,465,091 (GRCm39)	D175V	probably benign	Het
Heatr5b	T	C	17: 79,123,015 (GRCm39)	I655V	probably benign	Het
Hmcn1	G	A	1: 150,591,469 (GRCm39)	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ier2	A	T	8: 85,389,096 (GRCm39)	D95E	probably damaging	Het
Ifi208	A	G	1: 173,523,370 (GRCm39)	R547G	possibly damaging	Het
Kif19b	A	G	5: 140,461,785 (GRCm39)	E529G	probably damaging	Het
Marchf7	G	A	2: 60,074,015 (GRCm39)		probably null	Het
Mep1b	A	C	18: 21,224,325 (GRCm39)	T373P	probably damaging	Het
Mlh3	G	A	12: 85,282,497 (GRCm39)	P1379S	probably damaging	Het
Nav3	T	A	10: 109,605,032 (GRCm39)	K1014*	probably null	Het
Nme1	A	T	11: 93,851,658 (GRCm39)	F78I	probably benign	Het
Nos3	T	A	5: 24,576,745 (GRCm39)	V458D	probably damaging	Het
Noxa1	A	G	2: 24,984,852 (GRCm39)	F29L	probably benign	Het
Nrcam	G	A	12: 44,624,958 (GRCm39)	G1055D	probably benign	Het
Nutf2	A	T	8: 106,602,171 (GRCm39)		probably benign	Het
Oog3	A	G	4: 143,884,556 (GRCm39)	I460T	probably benign	Het
Or4b1b	A	T	2: 90,112,150 (GRCm39)	Y256*	probably null	Het
Or4c113	T	C	2: 88,885,477 (GRCm39)	M98V	probably benign	Het
Or5p78	A	T	7: 108,211,580 (GRCm39)	D22V	probably benign	Het
Or7e175	A	T	9: 20,048,630 (GRCm39)	M73L	possibly damaging	Het
Pde2a	A	T	7: 101,155,136 (GRCm39)	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,475,209 (GRCm39)	Q61*	probably null	Het
Pdpr	A	G	8: 111,852,240 (GRCm39)	T536A	possibly damaging	Het
Pias4	T	A	10: 80,999,846 (GRCm39)	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787 (GRCm39)	D188E	possibly damaging	Het
Pik3r2	A	G	8: 71,224,007 (GRCm39)	V270A	probably benign	Het
Plod2	T	A	9: 92,482,801 (GRCm39)	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,961,832 (GRCm39)	V450A	probably benign	Het
Poln	G	A	5: 34,286,871 (GRCm39)	T99I	possibly damaging	Het
Prg2	A	G	2: 84,812,404 (GRCm39)	D38G	possibly damaging	Het
Psmd7	A	C	8: 108,310,831 (GRCm39)	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Ranbp2	T	A	10: 58,328,414 (GRCm39)	V2810E	probably damaging	Het
Rgma	A	T	7: 73,067,648 (GRCm39)	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,246,814 (GRCm39)	T25A	probably damaging	Het
Serpinb6e	T	C	13: 34,024,977 (GRCm39)	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,513,396 (GRCm39)	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,613,843 (GRCm39)	T80S	probably benign	Het
Skint6	A	T	4: 113,049,869 (GRCm39)	S265R	possibly damaging	Het
Slc23a2	A	T	2: 131,902,629 (GRCm39)	F524L	probably benign	Het
Slc2a13	C	A	15: 91,234,302 (GRCm39)	G345C	probably damaging	Het
Sp110	A	G	1: 85,511,231 (GRCm39)		probably null	Het
Srcin1	A	G	11: 97,439,803 (GRCm39)	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,560,118 (GRCm39)	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,090,553 (GRCm39)	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,486,680 (GRCm39)	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,765,114 (GRCm39)	Q32L	probably benign	Het
Trav16n	A	C	14: 53,588,867 (GRCm39)	T48P	probably damaging	Het
Ufc1	A	G	1: 171,117,095 (GRCm39)	Y110H	probably damaging	Het
Wars2	A	G	3: 99,123,888 (GRCm39)	K250E	probably damaging	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Xirp2	A	T	2: 67,341,557 (GRCm39)	E1266V	probably damaging	Het
Zfp423	A	C	8: 88,507,857 (GRCm39)	L829R	probably damaging	Het
Zfp735	A	G	11: 73,603,029 (GRCm39)	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,547,847 (GRCm39)	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,662,687 (GRCm39)	M389K	probably damaging	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
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'- CCACTGAGAGCACATCAGAGAATG -3'
(R):5'- TGAGTACATGAGGCTGCACC -3'

Sequencing Primer
(F):5'- CATCAGAGAATGGGCTGACACC -3'
(R):5'- AACCTCTGTCACAGGCCGATTG -3'

Posted On

2021-04-30