Mutagenetix > Incidental Mutations

Incidental Mutation 'R7717:Itih1'

594992

Institutional Source

Beutler Lab

Gene Symbol

Itih1

Ensembl Gene

ENSMUSG00000006529

Gene Name

inter-alpha trypsin inhibitor, heavy chain 1

Synonyms

inter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1, Intin1

Accession Numbers

Genbank: NM_008406.3; Ensembl: ENSMUST00000163118

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30929180-30943289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30931185 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 766 (D766V)

Ref Sequence

ENSEMBL: ENSMUSP00000006704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006704
AA Change: D766V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: D766V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VIT	34	167	6e-79	SMART
low complexity region	240	251	N/A	INTRINSIC
VWA	291	472	2.1e-32	SMART
Blast:VWA	528	577	5e-21	BLAST
Pfam:ITI_HC_C	706	892	2.1e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163118
AA Change: D762V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: D762V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VIT	34	163	2.44e-80	SMART
low complexity region	236	247	N/A	INTRINSIC
VWA	287	468	3.43e-30	SMART
Blast:VWA	524	573	5e-21	BLAST
Pfam:ITI_HC_C	701	888	5.3e-81	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a heavy chain of inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors. IaI proteins are protein-glycosaminoglycan-protein complexes comprised of two heavy chains and a light chain. The encoded protein covalently associates with the light chain via a chondroitin sulfate moiety. Intravenous administration of the encoded protein improved survival of mice after infection with Escherichia coli. This gene is located adjacent to two other IaI heavy chain genes. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature protein. [provided by RefSeq, Oct 2015]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Itih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Itih1	APN	14	30929821	missense	probably benign	0.26
IGL00227:Itih1	APN	14	30942889	splice site	probably null
IGL00902:Itih1	APN	14	30932482	splice site	probably benign
IGL02194:Itih1	APN	14	30930365	missense	probably benign	0.01
IGL02221:Itih1	APN	14	30929587	missense	probably damaging	1.00
IGL02292:Itih1	APN	14	30933355	splice site	probably null
IGL02733:Itih1	APN	14	30936720	missense	probably damaging	1.00
IGL02928:Itih1	APN	14	30937758	missense	probably damaging	1.00
IGL03064:Itih1	APN	14	30941557	missense	probably benign	0.09
1mM(1):Itih1	UTSW	14	30929850	missense	probably damaging	1.00
R0092:Itih1	UTSW	14	30940863	splice site	probably benign
R0647:Itih1	UTSW	14	30935863	missense	probably damaging	1.00
R0662:Itih1	UTSW	14	30933360	missense	possibly damaging	0.63
R0744:Itih1	UTSW	14	30941555	missense	probably damaging	1.00
R0833:Itih1	UTSW	14	30941555	missense	probably damaging	1.00
R1070:Itih1	UTSW	14	30942456	splice site	probably benign
R1397:Itih1	UTSW	14	30929905	splice site	probably benign
R1797:Itih1	UTSW	14	30929899	missense	probably damaging	1.00
R1898:Itih1	UTSW	14	30932287	missense	probably benign
R1964:Itih1	UTSW	14	30929623	missense	probably damaging	1.00
R1967:Itih1	UTSW	14	30941984	missense	possibly damaging	0.67
R2086:Itih1	UTSW	14	30937843	missense	probably damaging	1.00
R2155:Itih1	UTSW	14	30938071	missense	probably damaging	1.00
R2156:Itih1	UTSW	14	30933475	missense	possibly damaging	0.88
R2225:Itih1	UTSW	14	30929577	missense	possibly damaging	0.88
R3836:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R3837:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R3839:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R4388:Itih1	UTSW	14	30941555	missense	possibly damaging	0.93
R4504:Itih1	UTSW	14	30935885	missense	probably damaging	1.00
R4618:Itih1	UTSW	14	30929831	missense	probably benign	0.33
R4682:Itih1	UTSW	14	30937843	missense	probably damaging	1.00
R4856:Itih1	UTSW	14	30936701	critical splice donor site	probably null
R4886:Itih1	UTSW	14	30936701	critical splice donor site	probably null
R5169:Itih1	UTSW	14	30933446	nonsense	probably null
R5773:Itih1	UTSW	14	30935399	missense	possibly damaging	0.89
R5875:Itih1	UTSW	14	30929530	missense	probably benign
R6048:Itih1	UTSW	14	30929823	missense	possibly damaging	0.89
R6077:Itih1	UTSW	14	30929876	missense	possibly damaging	0.75
R6175:Itih1	UTSW	14	30931195	missense	probably damaging	1.00
R6228:Itih1	UTSW	14	30931260	missense	probably benign	0.00
R6664:Itih1	UTSW	14	30933436	missense	probably damaging	1.00
R6675:Itih1	UTSW	14	30929841	missense	possibly damaging	0.50
R7059:Itih1	UTSW	14	30931309	missense	possibly damaging	0.93
R7168:Itih1	UTSW	14	30934107	missense	probably null	0.98
R7408:Itih1	UTSW	14	30943160	missense	probably benign	0.00
R7458:Itih1	UTSW	14	30943266	start codon destroyed	probably null
R8016:Itih1	UTSW	14	30935294	missense	probably damaging	0.96
R8035:Itih1	UTSW	14	30942525	missense	probably benign	0.25
Z1177:Itih1	UTSW	14	30929572	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATCTGTACAGGCCTTATGCG -3'
(R):5'- AAGGATATTCGACGTGCCAAAG -3'

Sequencing Primer
(F):5'- AGGCCTTATGCGTGTCCC -3'
(R):5'- TGCAGGCTTCACCGTGAATG -3'

Posted On

2019-11-12