Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Itih2'

33895

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

038471-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10094593-10131396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10115299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 309 (D309G)

Ref Sequence

ENSEMBL: ENSMUSP00000124636 (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: D309G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: D309G

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

possibly damaging
Transcript: ENSMUST00000155809
AA Change: D309G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254
AA Change: D309G

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

Meta Mutation Damage Score

0.0853

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	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
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
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'- GAAGGGCTGACACCCTTAGTCAATG -3'
(R):5'- CAGAACGGCTTAGACTCCCAGAATG -3'

Sequencing Primer
(F):5'- TGAGGATCAACAAGTACAGTTCCTG -3'
(R):5'- GGATGGATACACACCAAGCTTC -3'

Posted On

2013-05-09