Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Itih2'

617338

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

067460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10094593-10131396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10105652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 543 (T543A)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000155809]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042290
AA Change: T543A

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

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: T543A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155809

SMART Domains

Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VIT	60	189	4.35e-77	SMART
VWA	312	452	4.51e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably 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
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
R8919:Itih2	UTSW	2	10098011	nonsense	probably null
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'- AGATGGCAGAGATGCACCAC -3'
(R):5'- GATATCTGCTACATATTGAGAAGCC -3'

Sequencing Primer
(F):5'- GAGATGCACCACGCCTTC -3'
(R):5'- CACAACTACTTCGGAGGTT -3'

Posted On

2020-01-23