Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Itih1'

504499

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

044357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30651137-30665246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30653217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 737 (D737G)

Ref Sequence

ENSEMBL: ENSMUSP00000126449 (fasta)

Gene Model

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

AlphaFold

Q61702

Predicted Effect

probably benign
Transcript: ENSMUST00000006704
AA Change: D741G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: D741G

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 benign
Transcript: ENSMUST00000163118
AA Change: D737G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: D737G

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

Meta Mutation Damage Score

0.0911

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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
Abcc6	G	T	7: 45,679,680 (GRCm39)	T9K	probably benign	Het
Ankrd28	T	C	14: 31,429,177 (GRCm39)	H925R	probably damaging	Het
Antxrl	A	T	14: 33,778,556 (GRCm39)	T128S	probably damaging	Het
Atosa	A	G	9: 74,913,645 (GRCm39)	M100V	possibly damaging	Het
Atp8b5	T	C	4: 43,304,674 (GRCm39)	Y62H	probably damaging	Het
Bmpr2	G	T	1: 59,906,595 (GRCm39)	V563L	probably benign	Het
Btn1a1	A	T	13: 23,648,521 (GRCm39)	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,726,154 (GRCm39)	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,144,862 (GRCm39)	I150N	probably damaging	Het
Cdc26	C	T	4: 62,321,031 (GRCm39)	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,236,496 (GRCm39)	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,519,920 (GRCm39)		probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dgat1	T	C	15: 76,387,493 (GRCm39)	N317S	possibly damaging	Het
Disp1	G	A	1: 182,880,589 (GRCm39)	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,614,656 (GRCm39)		probably null	Het
Dnase1l2	C	A	17: 24,661,492 (GRCm39)		probably benign	Het
Dsg2	T	C	18: 20,727,350 (GRCm39)		probably null	Het
Duox2	A	T	2: 122,117,674 (GRCm39)	F887I	probably benign	Het
Duxf4	A	G	10: 58,071,344 (GRCm39)	M290T	probably benign	Het
Efcab6	T	C	15: 83,851,825 (GRCm39)	D351G	possibly damaging	Het
Ep400	A	G	5: 110,818,808 (GRCm39)	V2621A	probably damaging	Het
Epg5	G	T	18: 77,991,677 (GRCm39)	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,800,783 (GRCm39)	R953G	probably damaging	Het
Etfdh	G	T	3: 79,519,336 (GRCm39)	Y272*	probably null	Het
Fam117b	A	G	1: 60,008,207 (GRCm39)	E347G	probably damaging	Het
Gfra3	A	T	18: 34,828,846 (GRCm39)	C183S	probably damaging	Het
Gmip	A	G	8: 70,268,773 (GRCm39)	D466G	probably damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Gpd1	A	T	15: 99,621,146 (GRCm39)	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,312,851 (GRCm39)	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,520,623 (GRCm39)	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,728,973 (GRCm39)	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,313,081 (GRCm39)	M31V	possibly damaging	Het
Kcnc4	G	C	3: 107,355,693 (GRCm39)	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,468,921 (GRCm39)	T195S	probably damaging	Het
Limch1	A	T	5: 67,173,845 (GRCm39)	D642V	probably damaging	Het
Lrp2	T	G	2: 69,312,710 (GRCm39)	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,146,565 (GRCm39)	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Lypd8	A	T	11: 58,277,629 (GRCm39)	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,137,262 (GRCm39)	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,276,115 (GRCm39)	G483D	probably benign	Het
Mrpl35	C	A	6: 71,800,661 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,497,665 (GRCm39)	H936L	probably benign	Het
Myh3	A	T	11: 66,978,312 (GRCm39)	Y433F	probably benign	Het
Napb	C	T	2: 148,540,098 (GRCm39)		probably null	Het
Nbeal1	C	A	1: 60,335,083 (GRCm39)	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,465,301 (GRCm39)	Q224*	probably null	Het
Nkapd1	A	G	9: 50,518,971 (GRCm39)	S214P	possibly damaging	Het
Nkd2	A	G	13: 73,969,579 (GRCm39)	S284P	probably benign	Het
Or10a2	T	C	7: 106,673,343 (GRCm39)	Y103H	probably damaging	Het
Or5b12	A	T	19: 12,897,301 (GRCm39)	V124E	probably damaging	Het
Or6k2	G	A	1: 173,979,712 (GRCm39)	S210N	probably benign	Het
Or8h10	T	C	2: 86,809,035 (GRCm39)	Y35C	probably damaging	Het
Pcdhb8	A	G	18: 37,490,037 (GRCm39)	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,535,115 (GRCm39)	I370V	probably benign	Het
Pcsk5	T	G	19: 17,558,631 (GRCm39)	E592A	possibly damaging	Het
Pigc	T	C	1: 161,798,036 (GRCm39)	V6A	probably benign	Het
Pla2g6	T	G	15: 79,189,924 (GRCm39)	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,751,874 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,863,646 (GRCm39)	V288A	probably benign	Het
Rapgef5	A	G	12: 117,685,398 (GRCm39)		probably null	Het
Rcn3	T	C	7: 44,732,720 (GRCm39)	N316S	probably damaging	Het
Rgs6	A	G	12: 83,112,738 (GRCm39)	K183E	probably damaging	Het
Rhoc	A	G	3: 104,700,297 (GRCm39)		probably null	Het
Serinc5	T	C	13: 92,844,616 (GRCm39)	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,159,614 (GRCm39)	M93R	probably damaging	Het
Slc25a3	A	T	10: 90,958,090 (GRCm39)	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,015,777 (GRCm39)	Y459C	probably benign	Het
Slc44a5	A	T	3: 153,944,800 (GRCm39)	Y139F	probably benign	Het
Spag17	A	T	3: 99,929,918 (GRCm39)	Q539L	probably benign	Het
Stap2	C	T	17: 56,306,976 (GRCm39)	V234M	probably damaging	Het
Stard9	A	G	2: 120,544,231 (GRCm39)	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,756,030 (GRCm39)	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,003,266 (GRCm39)	V501I	probably damaging	Het
Thap2	T	C	10: 115,208,751 (GRCm39)	H123R	probably damaging	Het
Tlx3	C	A	11: 33,152,432 (GRCm39)	W221L	probably benign	Het
Tmem262	T	A	19: 6,130,567 (GRCm39)		probably null	Het
Tpmt	C	A	13: 47,180,735 (GRCm39)	R201S	probably benign	Het
Trpm6	T	C	19: 18,831,655 (GRCm39)	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,795,847 (GRCm39)	E64G	possibly damaging	Het
Ttn	A	T	2: 76,640,790 (GRCm39)	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,726 (GRCm39)	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,260,633 (GRCm39)	N224K	probably benign	Het
Vmn2r59	C	T	7: 41,691,835 (GRCm39)		probably null	Het
Wdfy3	A	G	5: 102,046,295 (GRCm39)	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,975,059 (GRCm39)	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,792,216 (GRCm39)	D324G	probably benign	Het
Zfp217	T	C	2: 169,961,497 (GRCm39)	T277A	probably benign	Het
Zfp451	A	G	1: 33,842,219 (GRCm39)		probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp871	T	C	17: 32,994,858 (GRCm39)	S106G	possibly damaging	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
R0833: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
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'- TCCCTTGGTCACACTGCTTAGG -3'
(R):5'- CCTCCTGGGAAGGATATTCGAC -3'

Sequencing Primer
(F):5'- CCTTGGTCACACTGCTTAGGAAATG -3'
(R):5'- TGGGAAGGATATTCGACGTGCC -3'

Posted On

2018-02-28