Mutagenetix > Incidental Mutation

Incidental Mutation 'R8919:Itih2'

679094

Institutional Source

Beutler Lab

Gene Symbol

Itih2

Ensembl Gene

ENSMUSG00000037254

Gene Name

inter-alpha trypsin inhibitor, heavy chain 2

Synonyms

Itih-2, Intin2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10094593-10131396 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 10098011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 771 (Q771*)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042290
AA Change: Q771*

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: Q771*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VIT	60	189	4.35e-77	SMART
VWA	312	498	6.6e-32	SMART
Pfam:ITI_HC_C	740	925	1.7e-75	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	C	17: 56,882,218	I209L	probably benign	Het
Aadat	C	T	8: 60,540,124	T373I	possibly damaging	Het
Abca13	T	C	11: 9,291,653	L1172P	possibly damaging	Het
Abcg2	A	G	6: 58,684,341	Y459C	probably benign	Het
AC125199.3	T	C	16: 88,812,173	N4D	possibly damaging	Het
Acad8	A	G	9: 26,999,489	M3T	probably benign	Het
Adcyap1r1	C	T	6: 55,497,095	T472I	probably damaging	Het
Ank3	A	T	10: 70,004,841	K1890N	possibly damaging	Het
Asic1	G	A	15: 99,671,945	C49Y	probably benign	Het
Atp1a1	T	C	3: 101,591,231	N215S	probably damaging	Het
C87436	A	G	6: 86,445,792	Y116C	probably damaging	Het
Car5a	T	C	8: 121,944,780	D5G	probably benign	Het
Ccdc169	T	C	3: 55,150,947		probably null	Het
Ccdc93	A	G	1: 121,499,241	R586G	probably damaging	Het
Cep295	A	G	9: 15,326,711	V131A	probably damaging	Het
Cox5a	A	G	9: 57,529,046	D60G	possibly damaging	Het
Cpne6	A	T	14: 55,512,647	E78D	probably benign	Het
Cyp2u1	T	C	3: 131,295,465	E390G	probably damaging	Het
Dab2	C	A	15: 6,435,790	N707K		Het
Dock10	A	T	1: 80,505,430	D2101E	probably benign	Het
Duoxa2	G	A	2: 122,301,876		probably null	Het
Eif4a3	T	C	11: 119,299,932	D22G	probably benign	Het
Fam160a2	T	C	7: 105,388,270	T369A	possibly damaging	Het
Fubp3	A	G	2: 31,592,464		probably null	Het
Gm10330	A	G	12: 23,779,886	L98P	probably benign	Het
Gm5108	A	G	5: 67,976,956	*102W	probably null	Het
Gpr149	A	C	3: 62,531,057	S560A	probably damaging	Het
Haspin	T	C	11: 73,136,604	D553G	probably benign	Het
Hsf1	C	T	15: 76,497,851	H104Y	probably benign	Het
Ifi203	T	C	1: 173,928,928	T430A	unknown	Het
Kazald1	T	A	19: 45,076,956	L92Q	probably damaging	Het
Krt19	T	C	11: 100,141,154	E324G	probably damaging	Het
Lrrc28	A	T	7: 67,619,085	V79E	possibly damaging	Het
Ltn1	T	A	16: 87,381,493	Q1616L	probably damaging	Het
Mdc1	A	G	17: 35,847,951	K408E	probably benign	Het
Nalcn	A	T	14: 123,323,872	M738K	probably benign	Het
Ncoa4	T	C	14: 32,172,891	L125P	probably damaging	Het
Ncor2	G	T	5: 125,029,189	R810S		Het
Neb	C	T	2: 52,237,129	G348D		Het
Nfat5	T	A	8: 107,368,596	F1156L	probably damaging	Het
Oit3	G	A	10: 59,441,646	T13I	unknown	Het
Olfr1135	A	C	2: 87,672,223	L48W	probably damaging	Het
Olfr1404	T	C	1: 173,216,497	I282T	probably damaging	Het
Olfr490	A	G	7: 108,287,082	F15L	probably damaging	Het
Olfr552	T	A	7: 102,604,504	I50N	probably damaging	Het
Olfr785	G	T	10: 129,410,213	M282I	probably benign	Het
Opa1	A	C	16: 29,605,522	Q230P	probably damaging	Het
Papd7	G	T	13: 69,503,709	T531N	possibly damaging	Het
Parpbp	T	C	10: 88,110,327	H410R	probably null	Het
Pex5l	A	G	3: 32,953,184	V481A	probably damaging	Het
Plekhh3	C	A	11: 101,166,399	R344L	probably benign	Het
Prrc2b	T	C	2: 32,214,941	V1477A	probably benign	Het
Ptp4a2	G	A	4: 129,845,152	G94S	possibly damaging	Het
Ptprk	T	A	10: 28,483,207	Y598*	probably null	Het
Rfx5	C	A	3: 94,957,164	T207N	probably damaging	Het
Rnase2b	A	G	14: 51,162,890	T143A	possibly damaging	Het
Scn1a	A	G	2: 66,337,986	V92A	probably benign	Het
Shank2	C	A	7: 144,411,528	P958T	probably damaging	Het
Slc13a1	A	G	6: 24,108,195	I294T	probably damaging	Het
Slc4a8	A	T	15: 100,814,540	E1084D	probably benign	Het
Smurf1	T	A	5: 144,883,612	R549*	probably null	Het
Sprr2b	T	C	3: 92,317,725	C93R	unknown	Het
Tcn2	G	T	11: 3,923,569	S259Y	probably damaging	Het
Tex43	T	C	18: 56,592,465	F66L	probably damaging	Het
Tle1	A	G	4: 72,158,288	S168P	possibly damaging	Het
Tnfrsf1b	C	T	4: 145,223,580	G264D	probably damaging	Het
Tnks2	T	A	19: 36,845,688	N118K	probably damaging	Het
Topaz1	G	T	9: 122,797,865		probably benign	Het
Traf3ip1	A	G	1: 91,516,074		probably benign	Het
Ttk	A	G	9: 83,839,269	E69G	probably damaging	Het
Tulp3	T	C	6: 128,334,003	D87G	probably benign	Het
Usp38	C	T	8: 80,981,850	G1033D	probably damaging	Het
Usp44	T	A	10: 93,857,913	N707K	probably benign	Het
Vipas39	T	A	12: 87,259,084	R112*	probably null	Het
Vmn1r185	A	C	7: 26,611,781	S100A	probably damaging	Het
Vmn1r209	T	C	13: 22,806,053	M156V	probably benign	Het
Vmn1r3	G	A	4: 3,184,863	T148I	probably benign	Het
Wdr41	G	A	13: 95,015,112	R260H	probably benign	Het
Wdr90	G	A	17: 25,857,172	R104C		Het
Wnk2	A	T	13: 49,068,235	H1183Q	possibly damaging	Het
Zfp667	A	T	7: 6,305,257	H308L	possibly damaging	Het
Zfp952	A	G	17: 33,001,654	N18D	possibly damaging	Het

Other mutations in Itih2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01641:Itih2	APN	2	10110439	missense	probably benign	0.00
IGL01775:Itih2	APN	2	10129286	missense	probably benign	0.19
IGL02516:Itih2	APN	2	10097917	missense	probably benign	0.00
IGL02698:Itih2	APN	2	10130501	missense	probably damaging	1.00
IGL02747:Itih2	APN	2	10097945	missense	probably benign	0.35
IGL03162:Itih2	APN	2	10126244	missense	probably damaging	1.00
IGL03325:Itih2	APN	2	10106735	missense	probably damaging	1.00
R0226:Itih2	UTSW	2	10115299	missense	possibly damaging	0.71
R0316:Itih2	UTSW	2	10105246	missense	possibly damaging	0.67
R0415:Itih2	UTSW	2	10105615	unclassified	probably benign
R0612:Itih2	UTSW	2	10117394	missense	probably benign	0.16
R0625:Itih2	UTSW	2	10123414	missense	possibly damaging	0.49
R0766:Itih2	UTSW	2	10097924	missense	probably benign	0.21
R1312:Itih2	UTSW	2	10097924	missense	probably benign	0.21
R1322:Itih2	UTSW	2	10109522	missense	probably damaging	1.00
R1521:Itih2	UTSW	2	10106747	missense	probably damaging	1.00
R1544:Itih2	UTSW	2	10105214	missense	probably benign	0.27
R1622:Itih2	UTSW	2	10102079	missense	probably benign	0.00
R1649:Itih2	UTSW	2	10105735	missense	probably benign	0.37
R2064:Itih2	UTSW	2	10130574	missense	possibly damaging	0.83
R2378:Itih2	UTSW	2	10094887	missense	probably damaging	1.00
R2893:Itih2	UTSW	2	10102197	missense	possibly damaging	0.79
R3732:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R3732:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R3733:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R4195:Itih2	UTSW	2	10115285	missense	probably damaging	1.00
R4405:Itih2	UTSW	2	10106737	nonsense	probably null
R4585:Itih2	UTSW	2	10110400	missense	probably benign	0.00
R4586:Itih2	UTSW	2	10110400	missense	probably benign	0.00
R4610:Itih2	UTSW	2	10105160	missense	probably damaging	0.96
R5311:Itih2	UTSW	2	10110535	missense	probably benign	0.01
R5361:Itih2	UTSW	2	10096461	missense	probably benign	0.09
R5436:Itih2	UTSW	2	10105196	missense	probably benign	0.00
R5454:Itih2	UTSW	2	10097993	missense	probably null	0.00
R5580:Itih2	UTSW	2	10123476	missense	probably damaging	1.00
R5621:Itih2	UTSW	2	10102805	missense	probably benign	0.00
R5846:Itih2	UTSW	2	10097903	missense	probably benign	0.00
R6083:Itih2	UTSW	2	10108894	intron	probably benign
R6190:Itih2	UTSW	2	10098507	missense	probably benign	0.37
R6198:Itih2	UTSW	2	10098541	missense	probably benign	0.00
R6469:Itih2	UTSW	2	10123413	missense	possibly damaging	0.65
R6816:Itih2	UTSW	2	10105706	missense	probably damaging	1.00
R6820:Itih2	UTSW	2	10098098	missense	probably benign	0.00
R6853:Itih2	UTSW	2	10115266	missense	probably damaging	1.00
R7102:Itih2	UTSW	2	10105763	missense	probably benign	0.27
R7173:Itih2	UTSW	2	10105163	missense	probably damaging	1.00
R7387:Itih2	UTSW	2	10130508	missense	possibly damaging	0.63
R8021:Itih2	UTSW	2	10105652	missense	probably benign
R8065:Itih2	UTSW	2	10123483	missense	probably damaging	0.99
R8067:Itih2	UTSW	2	10123483	missense	probably damaging	0.99
R8110:Itih2	UTSW	2	10097137	missense	probably damaging	0.98
R8721:Itih2	UTSW	2	10106808	missense	probably damaging	1.00
R8755:Itih2	UTSW	2	10098558	missense	probably damaging	1.00
R8785:Itih2	UTSW	2	10097969	missense	probably benign	0.03
R8868:Itih2	UTSW	2	10127789	missense	probably benign	0.10
R9287:Itih2	UTSW	2	10123486	missense	possibly damaging	0.88
R9496:Itih2	UTSW	2	10102173	missense	probably benign	0.01
R9657:Itih2	UTSW	2	10102875	missense	probably damaging	0.99
RF012:Itih2	UTSW	2	10117403	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TCAGCGTCCTTGTATCTAAAAGGAC -3'
(R):5'- ACATTGTTGACTTGCCAGGC -3'

Sequencing Primer
(F):5'- CCTTGTATCTAAAAGGACGGCTG -3'
(R):5'- GGCTTTATAAATACAAACTGTGGTGC -3'

Posted On

2021-08-02