Mutagenetix > Incidental Mutation

Incidental Mutation 'R2155:Itih1'

234742

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

040158-MU

Accession Numbers

Essential gene?

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

Stock #

R2155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30651137-30665246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30660028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 231 (F231S)

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: F235S

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

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: F235S

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: F231S

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

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: F231S

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,939,260 (GRCm39)	L41P	probably damaging	Het
Aff4	C	T	11: 53,290,446 (GRCm39)	L469F	probably damaging	Het
AI182371	G	A	2: 34,975,366 (GRCm39)	H288Y	probably benign	Het
AK157302	A	T	13: 21,679,827 (GRCm39)	K118*	probably null	Het
Arhgef2	G	A	3: 88,543,351 (GRCm39)	R454Q	probably damaging	Het
Asb17	C	T	3: 153,550,322 (GRCm39)	T118M	probably damaging	Het
Atp7b	A	G	8: 22,503,600 (GRCm39)	V718A	possibly damaging	Het
Cdca2	A	G	14: 67,952,287 (GRCm39)	L28S	probably damaging	Het
Cdh20	G	T	1: 109,976,594 (GRCm39)	L86F	probably damaging	Het
Cela2a	A	T	4: 141,545,350 (GRCm39)		probably null	Het
Cers3	T	A	7: 66,433,162 (GRCm39)	Y160N	probably damaging	Het
Chmp2b	A	G	16: 65,343,877 (GRCm39)	V56A	probably benign	Het
Cryl1	A	G	14: 57,635,880 (GRCm39)	V9A	unknown	Het
Dmbt1	A	T	7: 130,699,305 (GRCm39)	H978L	possibly damaging	Het
Dnm1	C	T	2: 32,204,949 (GRCm39)	V673M	probably damaging	Het
Dtx4	T	A	19: 12,462,646 (GRCm39)	K378*	probably null	Het
Extl1	A	T	4: 134,090,491 (GRCm39)	M328K	possibly damaging	Het
Fcgbp	T	C	7: 27,806,628 (GRCm39)	S2199P	probably benign	Het
Glis3	G	T	19: 28,508,702 (GRCm39)	N427K	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hesx1	A	G	14: 26,723,434 (GRCm39)	E88G	probably benign	Het
Hmcn2	A	T	2: 31,350,361 (GRCm39)	Q5086L	possibly damaging	Het
Ier3	A	G	17: 36,133,101 (GRCm39)	T128A	probably benign	Het
Igsf10	G	T	3: 59,239,101 (GRCm39)	T360K	probably damaging	Het
Ilkap	A	C	1: 91,312,345 (GRCm39)	C2G	possibly damaging	Het
Jrkl	A	T	9: 13,244,913 (GRCm39)	Y249*	probably null	Het
Kat6a	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	8: 23,425,663 (GRCm39)		probably benign	Het
Katnal2	A	T	18: 77,098,637 (GRCm39)	S184R	probably benign	Het
Kcnh5	T	A	12: 74,945,230 (GRCm39)		probably null	Het
Kcnj11	G	T	7: 45,748,781 (GRCm39)	L181I	probably damaging	Het
Klhl2	T	C	8: 65,202,804 (GRCm39)	T465A	probably benign	Het
Krt90	T	A	15: 101,471,046 (GRCm39)	Y72F	probably benign	Het
Lig4	G	A	8: 10,022,766 (GRCm39)	T338I	probably benign	Het
Lrrc37	T	C	11: 103,511,285 (GRCm39)	T228A	unknown	Het
Magel2	T	C	7: 62,030,540 (GRCm39)	V1148A	unknown	Het
Mak	C	A	13: 41,186,020 (GRCm39)	E549D	probably benign	Het
Marf1	G	T	16: 13,950,293 (GRCm39)	S1001Y	probably damaging	Het
Mcoln1	G	A	8: 3,561,787 (GRCm39)	V446I	probably damaging	Het
Meig1	T	C	2: 3,410,290 (GRCm39)	N70S	probably benign	Het
Mfsd14a	G	A	3: 116,441,479 (GRCm39)	T108I	probably damaging	Het
Mocs1	G	A	17: 49,761,386 (GRCm39)	M493I	probably damaging	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Myh6	A	T	14: 55,191,251 (GRCm39)	D863E	probably benign	Het
Myom2	T	A	8: 15,134,555 (GRCm39)	Y453N	probably damaging	Het
Nhlh1	A	G	1: 171,881,524 (GRCm39)	I114T	probably damaging	Het
Odr4	A	G	1: 150,258,086 (GRCm39)	V183A	possibly damaging	Het
Or12j4	A	C	7: 140,046,504 (GRCm39)	H130P	probably benign	Het
Or2y3	G	T	17: 38,393,071 (GRCm39)	P266Q	probably damaging	Het
Or4k5	A	T	14: 50,386,154 (GRCm39)	M59K	probably damaging	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or5p80	C	G	7: 108,229,984 (GRCm39)	P262A	probably damaging	Het
Pclo	T	C	5: 14,764,309 (GRCm39)	S976P	probably benign	Het
Pde3a	G	A	6: 141,429,640 (GRCm39)	E734K	possibly damaging	Het
Pdzd2	A	T	15: 12,375,879 (GRCm39)	S1419T	probably benign	Het
Pdzd8	T	A	19: 59,288,853 (GRCm39)	Y849F	probably damaging	Het
Phldb3	A	G	7: 24,312,070 (GRCm39)	E128G	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Ppp1r35	T	C	5: 137,778,267 (GRCm39)	M254T	probably benign	Het
Ppp3ca	G	T	3: 136,596,211 (GRCm39)	R292M	possibly damaging	Het
Ptk7	T	A	17: 46,890,543 (GRCm39)	T430S	probably benign	Het
Ptrh1	T	A	2: 32,667,040 (GRCm39)	N144K	possibly damaging	Het
Rbfox1	A	G	16: 7,111,946 (GRCm39)	T211A	possibly damaging	Het
Rbpjl	A	G	2: 164,256,343 (GRCm39)	D443G	possibly damaging	Het
Rcc1	A	G	4: 132,065,360 (GRCm39)		probably null	Het
Rimbp2	G	T	5: 128,865,229 (GRCm39)	S706R	probably damaging	Het
Rsph10b	G	C	5: 143,898,074 (GRCm39)	E96D	probably benign	Het
Scn10a	A	T	9: 119,438,514 (GRCm39)	I1784K	probably benign	Het
Sfxn2	A	G	19: 46,579,985 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,765,575 (GRCm39)	L233Q	probably damaging	Het
Slc17a5	A	T	9: 78,484,455 (GRCm39)	Y102N	probably damaging	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slco1a8	T	C	6: 141,926,670 (GRCm39)	D552G	probably damaging	Het
Smg7	G	A	1: 152,716,064 (GRCm39)	T1057I	possibly damaging	Het
Speer2	T	A	16: 69,657,485 (GRCm39)	T53S	possibly damaging	Het
Srm	A	C	4: 148,676,948 (GRCm39)	I100L	probably benign	Het
Stoml3	A	C	3: 53,415,008 (GRCm39)	N267H	probably damaging	Het
Thsd7a	A	C	6: 12,379,632 (GRCm39)	C931G	probably damaging	Het
Tlr11	A	G	14: 50,598,139 (GRCm39)	I42V	probably benign	Het
Tmigd1	T	C	11: 76,800,999 (GRCm39)	V162A	probably benign	Het
Tmx3	A	G	18: 90,528,505 (GRCm39)		probably null	Het
Topors	T	A	4: 40,262,790 (GRCm39)	R165W	possibly damaging	Het
Ttc17	A	T	2: 94,196,987 (GRCm39)	S453R	possibly damaging	Het
Vmn1r49	G	T	6: 90,049,441 (GRCm39)	T187N	probably damaging	Het
Zbtb49	A	T	5: 38,371,464 (GRCm39)	V139E	possibly damaging	Het
Zfp11	T	C	5: 129,734,216 (GRCm39)	H415R	probably damaging	Het
Zfp677	A	T	17: 21,617,970 (GRCm39)	K342N	probably benign	Het
Zfp979	A	C	4: 147,697,915 (GRCm39)	C265G	possibly damaging	Het
Zfpl1	T	C	19: 6,134,459 (GRCm39)	R9G	probably damaging	Het
Zkscan8	A	T	13: 21,704,759 (GRCm39)	C321*	probably null	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
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'- AAGTAGTTGTTGGCCACCTG -3'
(R):5'- ACTGGGCTTACTCCTATGCCTG -3'

Sequencing Primer
(F):5'- AAAGAGGCAGAGAGACCTTTC -3'
(R):5'- CCTGTAGGCAATCATATTCAGGTG -3'

Posted On

2014-10-01