Mutagenetix > Incidental Mutation

Incidental Mutation 'R7173:Itih2'

558394

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

045265-MU

Accession Numbers

Essential gene?

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

Stock #

R7173 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10099408-10135492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10109974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 593 (I593N)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042290
AA Change: I593N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: I593N

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,833,848 (GRCm39)	V403I	possibly damaging	Het
Actn1	G	A	12: 80,224,033 (GRCm39)	R475C	possibly damaging	Het
Adam11	T	C	11: 102,662,757 (GRCm39)	L191P	possibly damaging	Het
Adam21	G	T	12: 81,606,008 (GRCm39)	Q585K	probably benign	Het
Akap3	T	C	6: 126,841,729 (GRCm39)	V116A	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Alx4	G	T	2: 93,473,202 (GRCm39)	G67C	possibly damaging	Het
Ankrd17	A	T	5: 90,407,976 (GRCm39)	C1414S	possibly damaging	Het
Ankrd44	T	C	1: 54,805,550 (GRCm39)	D170G	probably damaging	Het
Arpc2	T	A	1: 74,303,531 (GRCm39)	M266K	probably damaging	Het
Atp12a	A	T	14: 56,621,837 (GRCm39)	N794I	probably damaging	Het
Cabin1	A	G	10: 75,582,396 (GRCm39)	L340P	probably benign	Het
Ccer1	A	T	10: 97,529,217 (GRCm39)		probably benign	Het
Cfap73	A	T	5: 120,772,279 (GRCm39)	Y8N	probably damaging	Het
Cfhr4	C	A	1: 139,659,415 (GRCm39)	E705*	probably null	Het
Cln3	T	C	7: 126,178,589 (GRCm39)	T173A	probably damaging	Het
Cxcl3	A	T	5: 90,934,008 (GRCm39)		probably benign	Het
Cyp2c66	G	C	19: 39,159,401 (GRCm39)	C284S	probably benign	Het
Dnajc22	T	C	15: 98,999,187 (GRCm39)	V124A	probably benign	Het
Dync1h1	C	G	12: 110,568,173 (GRCm39)	D45E	probably benign	Het
Elmod3	A	T	6: 72,554,235 (GRCm39)		probably null	Het
Enpp3	A	C	10: 24,649,945 (GRCm39)	V827G	probably damaging	Het
Esyt2	T	C	12: 116,327,154 (GRCm39)	I574T	probably benign	Het
Ext2	A	T	2: 93,643,957 (GRCm39)	I108N	probably damaging	Het
Fam186a	T	C	15: 99,843,531 (GRCm39)	I904M	unknown	Het
Fmnl2	T	C	2: 53,004,202 (GRCm39)	I638T	unknown	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Fras1	G	T	5: 96,925,937 (GRCm39)	A3714S	probably damaging	Het
Fsd1	C	A	17: 56,303,696 (GRCm39)	R479S	possibly damaging	Het
Gaa	C	T	11: 119,169,817 (GRCm39)	L624F	probably damaging	Het
Galnt2	G	A	8: 125,032,292 (GRCm39)	V86I	probably benign	Het
Gdap1l1	T	G	2: 163,280,608 (GRCm39)	V48G	probably damaging	Het
Gm10549	A	G	18: 33,597,462 (GRCm39)	T83A	unknown	Het
Gm11437	T	G	11: 84,055,374 (GRCm39)	T81P	probably benign	Het
Gm16253	T	C	3: 96,487,979 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,504,595 (GRCm39)	M83K	probably benign	Het
Grik5	T	C	7: 24,767,587 (GRCm39)	D31G	probably damaging	Het
Hcrtr2	A	G	9: 76,167,013 (GRCm39)	L108P	probably damaging	Het
Herc2	T	A	7: 55,853,575 (GRCm39)	L3689Q	probably damaging	Het
Igf2bp1	T	C	11: 95,859,290 (GRCm39)	M407V	probably benign	Het
Irgq	A	T	7: 24,233,185 (GRCm39)	E342V	probably damaging	Het
Ivd	G	T	2: 118,701,870 (GRCm39)	G101C	probably damaging	Het
Jakmip1	G	A	5: 37,248,708 (GRCm39)	G123S	probably damaging	Het
Kif14	T	A	1: 136,406,908 (GRCm39)	I580N	probably damaging	Het
Kmt2e	A	T	5: 23,669,855 (GRCm39)	Y114F	probably damaging	Het
Ly6g5b	C	A	17: 35,333,680 (GRCm39)	C99F	probably damaging	Het
Map3k20	C	T	2: 72,271,758 (GRCm39)	P629S	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,582,862 (GRCm39)	F476L	probably damaging	Het
Mup18	T	C	4: 61,590,199 (GRCm39)	T110A	probably benign	Het
Nlrp9a	A	G	7: 26,257,603 (GRCm39)	D407G	probably benign	Het
Nmur1	G	A	1: 86,314,190 (GRCm39)	R359C	probably benign	Het
Or5ac24	T	C	16: 59,165,510 (GRCm39)	T185A	probably benign	Het
Or5p64	C	T	7: 107,854,955 (GRCm39)	C130Y	possibly damaging	Het
Panx3	A	T	9: 37,572,596 (GRCm39)	M318K	probably damaging	Het
Pcnx1	T	C	12: 81,999,777 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,241 (GRCm39)	Y1063C	possibly damaging	Het
Psme3ip1	A	T	8: 95,315,486 (GRCm39)	F15L	probably damaging	Het
Rere	G	A	4: 150,553,195 (GRCm39)	R129H	probably damaging	Het
Rpgrip1	A	G	14: 52,349,633 (GRCm39)	Y7C	possibly damaging	Het
Serpina6	T	C	12: 103,613,253 (GRCm39)	N349S	possibly damaging	Het
Slc10a1	T	G	12: 81,002,750 (GRCm39)	E296A	probably damaging	Het
Slc2a9	A	T	5: 38,610,214 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,873,221 (GRCm39)	M138K	probably benign	Het
Tbl3	T	C	17: 24,924,233 (GRCm39)	T175A	probably benign	Het
Tbrg4	T	C	11: 6,570,810 (GRCm39)	T221A	possibly damaging	Het
Tenm2	T	C	11: 35,932,378 (GRCm39)	T1739A	probably damaging	Het
Tmed5	T	C	5: 108,280,187 (GRCm39)	D35G	probably benign	Het
Tnfsf15	A	T	4: 63,647,889 (GRCm39)	S250R	probably damaging	Het
Tnpo2	G	T	8: 85,781,707 (GRCm39)	V830F	probably benign	Het
Ttbk2	G	T	2: 120,570,592 (GRCm39)	S1187Y	probably damaging	Het
Ttn	G	A	2: 76,625,029 (GRCm39)	T15183M	possibly damaging	Het
Tubgcp3	T	C	8: 12,689,259 (GRCm39)		probably null	Het
Vmn1r38	T	C	6: 66,753,278 (GRCm39)	I279M	possibly damaging	Het
Vmn1r49	A	T	6: 90,049,250 (GRCm39)	Y251N	possibly damaging	Het
Vmn1r66	C	T	7: 10,008,482 (GRCm39)	V184I	probably benign	Het
Vmn2r26	T	A	6: 124,038,255 (GRCm39)	M610K	probably benign	Het
Xrn2	C	T	2: 146,884,013 (GRCm39)	P591S	probably damaging	Het

Other mutations in Itih2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01641:Itih2	APN	2	10,115,250 (GRCm39)	missense	probably benign	0.00
IGL01775:Itih2	APN	2	10,134,097 (GRCm39)	missense	probably benign	0.19
IGL02516:Itih2	APN	2	10,102,728 (GRCm39)	missense	probably benign	0.00
IGL02698:Itih2	APN	2	10,135,312 (GRCm39)	missense	probably damaging	1.00
IGL02747:Itih2	APN	2	10,102,756 (GRCm39)	missense	probably benign	0.35
IGL03162:Itih2	APN	2	10,131,055 (GRCm39)	missense	probably damaging	1.00
IGL03325:Itih2	APN	2	10,111,546 (GRCm39)	missense	probably damaging	1.00
R0226:Itih2	UTSW	2	10,120,110 (GRCm39)	missense	possibly damaging	0.71
R0316:Itih2	UTSW	2	10,110,057 (GRCm39)	missense	possibly damaging	0.67
R0415:Itih2	UTSW	2	10,110,426 (GRCm39)	unclassified	probably benign
R0612:Itih2	UTSW	2	10,122,205 (GRCm39)	missense	probably benign	0.16
R0625:Itih2	UTSW	2	10,128,225 (GRCm39)	missense	possibly damaging	0.49
R0766:Itih2	UTSW	2	10,102,735 (GRCm39)	missense	probably benign	0.21
R1312:Itih2	UTSW	2	10,102,735 (GRCm39)	missense	probably benign	0.21
R1322:Itih2	UTSW	2	10,114,333 (GRCm39)	missense	probably damaging	1.00
R1521:Itih2	UTSW	2	10,111,558 (GRCm39)	missense	probably damaging	1.00
R1544:Itih2	UTSW	2	10,110,025 (GRCm39)	missense	probably benign	0.27
R1622:Itih2	UTSW	2	10,106,890 (GRCm39)	missense	probably benign	0.00
R1649:Itih2	UTSW	2	10,110,546 (GRCm39)	missense	probably benign	0.37
R2064:Itih2	UTSW	2	10,135,385 (GRCm39)	missense	possibly damaging	0.83
R2378:Itih2	UTSW	2	10,099,698 (GRCm39)	missense	probably damaging	1.00
R2893:Itih2	UTSW	2	10,107,008 (GRCm39)	missense	possibly damaging	0.79
R3732:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R3732:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R3733:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R4195:Itih2	UTSW	2	10,120,096 (GRCm39)	missense	probably damaging	1.00
R4405:Itih2	UTSW	2	10,111,548 (GRCm39)	nonsense	probably null
R4585:Itih2	UTSW	2	10,115,211 (GRCm39)	missense	probably benign	0.00
R4586:Itih2	UTSW	2	10,115,211 (GRCm39)	missense	probably benign	0.00
R4610:Itih2	UTSW	2	10,109,971 (GRCm39)	missense	probably damaging	0.96
R5311:Itih2	UTSW	2	10,115,346 (GRCm39)	missense	probably benign	0.01
R5361:Itih2	UTSW	2	10,101,272 (GRCm39)	missense	probably benign	0.09
R5436:Itih2	UTSW	2	10,110,007 (GRCm39)	missense	probably benign	0.00
R5454:Itih2	UTSW	2	10,102,804 (GRCm39)	missense	probably null	0.00
R5580:Itih2	UTSW	2	10,128,287 (GRCm39)	missense	probably damaging	1.00
R5621:Itih2	UTSW	2	10,107,616 (GRCm39)	missense	probably benign	0.00
R5846:Itih2	UTSW	2	10,102,714 (GRCm39)	missense	probably benign	0.00
R6083:Itih2	UTSW	2	10,113,705 (GRCm39)	intron	probably benign
R6190:Itih2	UTSW	2	10,103,318 (GRCm39)	missense	probably benign	0.37
R6198:Itih2	UTSW	2	10,103,352 (GRCm39)	missense	probably benign	0.00
R6469:Itih2	UTSW	2	10,128,224 (GRCm39)	missense	possibly damaging	0.65
R6816:Itih2	UTSW	2	10,110,517 (GRCm39)	missense	probably damaging	1.00
R6820:Itih2	UTSW	2	10,102,909 (GRCm39)	missense	probably benign	0.00
R6853:Itih2	UTSW	2	10,120,077 (GRCm39)	missense	probably damaging	1.00
R7102:Itih2	UTSW	2	10,110,574 (GRCm39)	missense	probably benign	0.27
R7387:Itih2	UTSW	2	10,135,319 (GRCm39)	missense	possibly damaging	0.63
R8021:Itih2	UTSW	2	10,110,463 (GRCm39)	missense	probably benign
R8065:Itih2	UTSW	2	10,128,294 (GRCm39)	missense	probably damaging	0.99
R8067:Itih2	UTSW	2	10,128,294 (GRCm39)	missense	probably damaging	0.99
R8110:Itih2	UTSW	2	10,101,948 (GRCm39)	missense	probably damaging	0.98
R8721:Itih2	UTSW	2	10,111,619 (GRCm39)	missense	probably damaging	1.00
R8755:Itih2	UTSW	2	10,103,369 (GRCm39)	missense	probably damaging	1.00
R8785:Itih2	UTSW	2	10,102,780 (GRCm39)	missense	probably benign	0.03
R8868:Itih2	UTSW	2	10,132,600 (GRCm39)	missense	probably benign	0.10
R8919:Itih2	UTSW	2	10,102,822 (GRCm39)	nonsense	probably null
R9287:Itih2	UTSW	2	10,128,297 (GRCm39)	missense	possibly damaging	0.88
R9496:Itih2	UTSW	2	10,106,984 (GRCm39)	missense	probably benign	0.01
R9657:Itih2	UTSW	2	10,107,686 (GRCm39)	missense	probably damaging	0.99
RF012:Itih2	UTSW	2	10,122,214 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGTTCCAAATACTCCTTGTTCATG -3'
(R):5'- CCCCAAGTGCATTTACAGCAG -3'

Sequencing Primer
(F):5'- AAATGTCCCATTTGCTGTTTGG -3'
(R):5'- GCATTTACAGCAGATGAGTTGACTG -3'

Posted On

2019-06-26