Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Itih1'

77671

Institutional Source

Beutler Lab

Gene Symbol

Itih1

Ensembl Gene

ENSMUSG00000006529

Gene Name

inter-alpha trypsin inhibitor, heavy chain 1

Synonyms

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

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30651137-30665246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30663512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 164 (V164E)

Ref Sequence

ENSEMBL: ENSMUSP00000126449 (fasta)

Gene Model

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

AlphaFold

Q61702

Predicted Effect

probably damaging
Transcript: ENSMUST00000006704
AA Change: V168E

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

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: V168E

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: V164E

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

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: V164E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227938

Meta Mutation Damage Score

0.3093

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,679,607 (GRCm39)	V390M	probably damaging	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Arl2	T	G	19: 6,186,052 (GRCm39)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fam219b	A	G	9: 57,445,299 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Gm14496	T	C	2: 181,638,059 (GRCm39)	W378R	probably damaging	Het
Gm57858	A	G	3: 36,074,362 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,058,611 (GRCm39)		noncoding transcript	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,339,385 (GRCm39)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,178 (GRCm39)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,609,019 (GRCm39)		probably null	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Meis1	G	A	11: 18,831,767 (GRCm39)	H424Y	possibly damaging	Het
Mst1r	A	G	9: 107,791,975 (GRCm39)	N837S	probably benign	Het
Mst1r	G	A	9: 107,790,366 (GRCm39)	V660I	probably benign	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or51g1	C	A	7: 102,634,043 (GRCm39)	L109F	possibly damaging	Het
Or8b12b	T	C	9: 37,684,372 (GRCm39)	V139A	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel18	G	A	4: 101,767,294 (GRCm39)	C181Y	probably damaging	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,102,483 (GRCm39)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,128,748 (GRCm39)	C25*	probably null	Het
Ugt3a1	A	G	15: 9,370,236 (GRCm39)	D460G	probably damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,209,694 (GRCm39)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Zng1	A	G	19: 24,918,203 (GRCm39)		probably benign	Het

Other mutations in Itih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Itih1	APN	14	30,651,778 (GRCm39)	missense	probably benign	0.26
IGL00227:Itih1	APN	14	30,664,846 (GRCm39)	splice site	probably null
IGL00902:Itih1	APN	14	30,654,439 (GRCm39)	splice site	probably benign
IGL02194:Itih1	APN	14	30,652,322 (GRCm39)	missense	probably benign	0.01
IGL02221:Itih1	APN	14	30,651,544 (GRCm39)	missense	probably damaging	1.00
IGL02292:Itih1	APN	14	30,655,312 (GRCm39)	splice site	probably null
IGL02733:Itih1	APN	14	30,658,677 (GRCm39)	missense	probably damaging	1.00
IGL02928:Itih1	APN	14	30,659,715 (GRCm39)	missense	probably damaging	1.00
IGL03064:Itih1	APN	14	30,663,514 (GRCm39)	missense	probably benign	0.09
1mM(1):Itih1	UTSW	14	30,651,807 (GRCm39)	missense	probably damaging	1.00
R0092:Itih1	UTSW	14	30,662,820 (GRCm39)	splice site	probably benign
R0647:Itih1	UTSW	14	30,657,820 (GRCm39)	missense	probably damaging	1.00
R0662:Itih1	UTSW	14	30,655,317 (GRCm39)	missense	possibly damaging	0.63
R0744:Itih1	UTSW	14	30,663,512 (GRCm39)	missense	probably damaging	1.00
R1070:Itih1	UTSW	14	30,664,413 (GRCm39)	splice site	probably benign
R1397:Itih1	UTSW	14	30,651,862 (GRCm39)	splice site	probably benign
R1797:Itih1	UTSW	14	30,651,856 (GRCm39)	missense	probably damaging	1.00
R1898:Itih1	UTSW	14	30,654,244 (GRCm39)	missense	probably benign
R1964:Itih1	UTSW	14	30,651,580 (GRCm39)	missense	probably damaging	1.00
R1967:Itih1	UTSW	14	30,663,941 (GRCm39)	missense	possibly damaging	0.67
R2086:Itih1	UTSW	14	30,659,800 (GRCm39)	missense	probably damaging	1.00
R2155:Itih1	UTSW	14	30,660,028 (GRCm39)	missense	probably damaging	1.00
R2156:Itih1	UTSW	14	30,655,432 (GRCm39)	missense	possibly damaging	0.88
R2225:Itih1	UTSW	14	30,651,534 (GRCm39)	missense	possibly damaging	0.88
R3836:Itih1	UTSW	14	30,657,785 (GRCm39)	missense	probably damaging	1.00
R3837:Itih1	UTSW	14	30,657,785 (GRCm39)	missense	probably damaging	1.00
R3839:Itih1	UTSW	14	30,657,785 (GRCm39)	missense	probably damaging	1.00
R4388:Itih1	UTSW	14	30,663,512 (GRCm39)	missense	possibly damaging	0.93
R4504:Itih1	UTSW	14	30,657,842 (GRCm39)	missense	probably damaging	1.00
R4618:Itih1	UTSW	14	30,651,788 (GRCm39)	missense	probably benign	0.33
R4682:Itih1	UTSW	14	30,659,800 (GRCm39)	missense	probably damaging	1.00
R4856:Itih1	UTSW	14	30,658,658 (GRCm39)	critical splice donor site	probably null
R4886:Itih1	UTSW	14	30,658,658 (GRCm39)	critical splice donor site	probably null
R5169:Itih1	UTSW	14	30,655,403 (GRCm39)	nonsense	probably null
R5773:Itih1	UTSW	14	30,657,356 (GRCm39)	missense	possibly damaging	0.89
R5875:Itih1	UTSW	14	30,651,487 (GRCm39)	missense	probably benign
R6048:Itih1	UTSW	14	30,651,780 (GRCm39)	missense	possibly damaging	0.89
R6077:Itih1	UTSW	14	30,651,833 (GRCm39)	missense	possibly damaging	0.75
R6175:Itih1	UTSW	14	30,653,152 (GRCm39)	missense	probably damaging	1.00
R6228:Itih1	UTSW	14	30,653,217 (GRCm39)	missense	probably benign	0.00
R6664:Itih1	UTSW	14	30,655,393 (GRCm39)	missense	probably damaging	1.00
R6675:Itih1	UTSW	14	30,651,798 (GRCm39)	missense	possibly damaging	0.50
R7059:Itih1	UTSW	14	30,653,266 (GRCm39)	missense	possibly damaging	0.93
R7168:Itih1	UTSW	14	30,656,064 (GRCm39)	missense	probably null	0.98
R7408:Itih1	UTSW	14	30,665,117 (GRCm39)	missense	probably benign	0.00
R7458:Itih1	UTSW	14	30,665,223 (GRCm39)	start codon destroyed	probably null
R7717:Itih1	UTSW	14	30,653,142 (GRCm39)	missense	probably damaging	1.00
R8016:Itih1	UTSW	14	30,657,251 (GRCm39)	missense	probably damaging	0.96
R8035:Itih1	UTSW	14	30,664,482 (GRCm39)	missense	probably benign	0.25
R8111:Itih1	UTSW	14	30,654,225 (GRCm39)	missense	probably damaging	0.99
R8131:Itih1	UTSW	14	30,663,521 (GRCm39)	missense	probably damaging	1.00
R8171:Itih1	UTSW	14	30,659,047 (GRCm39)	missense	possibly damaging	0.80
R8769:Itih1	UTSW	14	30,655,381 (GRCm39)	missense	probably damaging	1.00
R8947:Itih1	UTSW	14	30,657,866 (GRCm39)	splice site	probably benign
R8960:Itih1	UTSW	14	30,655,414 (GRCm39)	missense	probably damaging	1.00
R9022:Itih1	UTSW	14	30,652,327 (GRCm39)	missense	probably benign	0.01
R9065:Itih1	UTSW	14	30,657,833 (GRCm39)	missense	probably damaging	1.00
R9266:Itih1	UTSW	14	30,652,222 (GRCm39)	missense	probably damaging	0.98
R9296:Itih1	UTSW	14	30,653,251 (GRCm39)	missense	probably benign	0.15
R9525:Itih1	UTSW	14	30,658,711 (GRCm39)	missense	probably benign	0.43
R9654:Itih1	UTSW	14	30,664,870 (GRCm39)	missense	probably damaging	1.00
Z1177:Itih1	UTSW	14	30,651,529 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTGAACCATTGCTGAAAGCCAC -3'
(R):5'- GTAAGCCTGTCTAAGCTGGCATCTG -3'

Sequencing Primer
(F):5'- TTGCTGAAAGCCACAGTTGG -3'
(R):5'- GTGGGGTACATCCTTGAGC -3'

Posted On

2013-10-16