Mutagenetix > Incidental Mutation

Incidental Mutation 'R8892:Itih3'

677781

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

068695-MU

Accession Numbers

Essential gene?

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

Stock #

R8892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30630529-30645717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30637635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 508 (V508A)

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: V508A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: V508A

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
AA Change: V508A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000228114

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Adpgk	A	G	9: 59,217,623 (GRCm39)	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,579,378 (GRCm39)	D219N	probably benign	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Bbs1	A	C	19: 4,942,954 (GRCm39)	S479A	probably benign	Het
Bean1	A	T	8: 104,943,610 (GRCm39)	D231V	probably damaging	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Chd9	A	G	8: 91,660,468 (GRCm39)	N476S	unknown	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Csmd3	T	A	15: 47,604,634 (GRCm39)	K1036N		Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Dhrs1	G	A	14: 55,977,404 (GRCm39)	A238V	possibly damaging	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lama4	T	A	10: 38,973,194 (GRCm39)	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,377,376 (GRCm39)	E152D	probably damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Ly9	A	T	1: 171,421,465 (GRCm39)	D595E	possibly damaging	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Magi3	C	T	3: 103,958,141 (GRCm39)	G648D	probably damaging	Het
Mgll	T	A	6: 88,743,306 (GRCm39)	C109S	unknown	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Naa16	A	T	14: 79,628,016 (GRCm39)	F14I	probably benign	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1b1	C	A	2: 36,995,523 (GRCm39)	L46F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pou2f1	A	T	1: 165,708,027 (GRCm39)	S552T	unknown	Het
Ppp2r3c	A	T	12: 55,336,453 (GRCm39)	L233Q	possibly damaging	Het
Prl8a1	G	A	13: 27,766,069 (GRCm39)	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc44a2	G	A	9: 21,253,153 (GRCm39)		probably benign	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Spc24	G	A	9: 21,668,994 (GRCm39)	Q98*	probably null	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tango6	A	G	8: 107,468,845 (GRCm39)	I780M	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Top6bl	A	G	19: 4,699,721 (GRCm39)	V494A	possibly damaging	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Tyk2	T	C	9: 21,027,463 (GRCm39)	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,571,474 (GRCm39)	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,308,105 (GRCm39)	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
R8794:Itih3	UTSW	14	30,634,854 (GRCm39)	missense	possibly damaging	0.71
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'- ACTGAGAGACTTGAGAGCCG -3'
(R):5'- GCATTTGTGAGACCAACCTATCC -3'

Sequencing Primer
(F):5'- AGACTTGAGAGCCGGATTGTG -3'
(R):5'- TGAGACCAACCTATCCTGGGC -3'

Posted On

2021-08-02