Mutagenetix > Incidental Mutation

Incidental Mutation 'R0783:Itih4'

76733

Institutional Source

Beutler Lab

Gene Symbol

Itih4

Ensembl Gene

ENSMUSG00000021922

Gene Name

inter alpha-trypsin inhibitor, heavy chain 4

Synonyms

Itih-4

MMRRC Submission

038963-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0783 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

30886476-30902353 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30895423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 567 (E567K)

Ref Sequence

ENSEMBL: ENSMUSP00000006703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006703] [ENSMUST00000078490] [ENSMUST00000120269] [ENSMUST00000168782]

AlphaFold

A6X935

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006703
AA Change: E567K

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: E567K

Domain	Start	End	E-Value	Type
VIT	19	148	3.22e-80	SMART
VWA	272	456	5.97e-30	SMART
coiled coil region	552	584	N/A	INTRINSIC
low complexity region	662	690	N/A	INTRINSIC
Pfam:ITI_HC_C	781	941	2e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078490
AA Change: E567K

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: E567K

Domain	Start	End	E-Value	Type
VIT	19	148	3.22e-80	SMART
VWA	272	456	5.97e-30	SMART
coiled coil region	552	584	N/A	INTRINSIC
low complexity region	662	690	N/A	INTRINSIC
Pfam:ITI_HC_C	777	941	2.2e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120269
AA Change: E567K

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: E567K

Domain	Start	End	E-Value	Type
VIT	19	148	3.22e-80	SMART
VWA	272	456	5.97e-30	SMART
coiled coil region	552	584	N/A	INTRINSIC
low complexity region	662	690	N/A	INTRINSIC
Pfam:ITI_HC_C	738	902	6.5e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134988

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168782
AA Change: E567K

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: E567K

Domain	Start	End	E-Value	Type
VIT	19	148	3.22e-80	SMART
VWA	272	456	5.97e-30	SMART
coiled coil region	552	584	N/A	INTRINSIC
low complexity region	662	690	N/A	INTRINSIC
Pfam:ITI_HC_C	761	925	2.2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227899

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 92.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

FUNCTION: This gene encodes a member of the inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors with diverse functions as anti-apoptotic and matrix stabilizing molecules during development. This gene is predominantly expressed in the liver and the encoded protein was found to be a plasma kallikrein-sensitive glycoprotein. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal. Surprisingly, IL-6/STAT3 signaling is significantly suppressed in mutant liver tissues but hepatocytes remain well differentiated. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,294,157	G1277R	probably damaging	Het
Abi3bp	A	G	16: 56,595,238		probably null	Het
Acsm2	G	A	7: 119,573,117	G61D	probably damaging	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Bbs9	T	C	9: 22,567,714	L151S	possibly damaging	Het
Camk2g	T	A	14: 20,744,636	T173S	possibly damaging	Het
Eif3b	T	C	5: 140,419,837		probably benign	Het
Eif3i	A	C	4: 129,592,076	F319V	possibly damaging	Het
Eprs	T	C	1: 185,398,458	L672P	probably damaging	Het
Fras1	C	T	5: 96,768,430	A3441V	probably damaging	Het
Gigyf2	T	A	1: 87,407,161	M79K	probably damaging	Het
Grrp1	G	A	4: 134,252,057	R37C	probably damaging	Het
Hdac1	T	C	4: 129,518,109	N331S	probably benign	Het
Hmcn1	C	T	1: 150,650,073	G3300S	probably damaging	Het
Iars2	T	C	1: 185,320,874	E400G	probably damaging	Het
Irx2	T	C	13: 72,632,650		probably null	Het
Klhl5	T	A	5: 65,156,253		probably benign	Het
Klk8	G	A	7: 43,802,197	G204E	probably damaging	Het
Loxhd1	T	C	18: 77,429,984	F1843L	possibly damaging	Het
Mllt6	T	C	11: 97,665,745	V87A	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nhlrc3	A	T	3: 53,462,449	S34T	probably benign	Het
Olfr1099	A	G	2: 86,958,562	C299R	probably benign	Het
Olfr1224-ps1	A	T	2: 89,156,891	C95S	probably benign	Het
Olfr1494	T	C	19: 13,749,676	L190P	probably damaging	Het
Olfr193	A	T	16: 59,110,169	L147*	probably null	Het
Olfr549	A	G	7: 102,554,439	I52V	probably benign	Het
Olfr593	T	C	7: 103,212,670	F259S	probably damaging	Het
Pcnx4	T	C	12: 72,575,478	W1074R	probably damaging	Het
Pcsk9	T	C	4: 106,450,117	T310A	probably benign	Het
Pfas	A	G	11: 69,000,521	L250P	probably damaging	Het
Plk5	T	A	10: 80,361,130	D352E	probably benign	Het
Ryr3	A	G	2: 112,756,327		probably benign	Het
Serinc3	A	G	2: 163,637,003	I68T	possibly damaging	Het
Sez6l2	A	G	7: 126,967,145	T810A	possibly damaging	Het
Tmprss7	G	A	16: 45,667,606	Q487*	probably null	Het
Tnf	A	G	17: 35,201,674	I56T	probably damaging	Het
Ttbk2	A	T	2: 120,739,977	S1163T	possibly damaging	Het
Ttn	G	A	2: 76,743,530	T23927I	probably damaging	Het
Urb1	G	A	16: 90,810,297	A15V	possibly damaging	Het
Zfp128	C	T	7: 12,890,272	P189L	probably damaging	Het
Zfr	T	C	15: 12,162,182	V806A	probably damaging	Het

Other mutations in Itih4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Itih4	APN	14	30895469	missense	probably damaging	0.97
IGL00776:Itih4	APN	14	30889604	missense	probably benign	0.03
IGL01309:Itih4	APN	14	30891749	missense	probably damaging	1.00
IGL01433:Itih4	APN	14	30895448	missense	probably benign	0.01
IGL01598:Itih4	APN	14	30887817	missense	possibly damaging	0.92
IGL02332:Itih4	APN	14	30887860	missense	probably damaging	1.00
IGL03075:Itih4	APN	14	30892283	missense	probably benign	0.02
IGL03304:Itih4	APN	14	30898049	missense	probably damaging	0.98
IGL03353:Itih4	APN	14	30887844	missense	probably damaging	1.00
IGL03396:Itih4	APN	14	30887949	missense	probably damaging	1.00
PIT4453001:Itih4	UTSW	14	30901170	missense	probably benign	0.29
R0304:Itih4	UTSW	14	30890094	splice site	probably null
R0477:Itih4	UTSW	14	30889674	missense	probably damaging	1.00
R0882:Itih4	UTSW	14	30892274	missense	probably damaging	1.00
R1118:Itih4	UTSW	14	30896167	splice site	probably benign
R1126:Itih4	UTSW	14	30889961	critical splice donor site	probably null
R1238:Itih4	UTSW	14	30887949	missense	probably damaging	1.00
R1456:Itih4	UTSW	14	30892653	missense	probably benign	0.31
R1573:Itih4	UTSW	14	30897547	missense	probably benign	0.00
R1695:Itih4	UTSW	14	30891499	critical splice donor site	probably null
R2085:Itih4	UTSW	14	30892323	missense	possibly damaging	0.91
R2093:Itih4	UTSW	14	30891737	missense	probably damaging	1.00
R2213:Itih4	UTSW	14	30890713	missense	probably damaging	0.99
R2249:Itih4	UTSW	14	30899394	nonsense	probably null
R2267:Itih4	UTSW	14	30892428	missense	probably damaging	1.00
R2268:Itih4	UTSW	14	30892428	missense	probably damaging	1.00
R2508:Itih4	UTSW	14	30895478	missense	probably damaging	1.00
R3724:Itih4	UTSW	14	30892584	missense	possibly damaging	0.60
R3859:Itih4	UTSW	14	30892329	missense	probably damaging	1.00
R4042:Itih4	UTSW	14	30895038	missense	probably damaging	1.00
R4044:Itih4	UTSW	14	30895038	missense	probably damaging	1.00
R4246:Itih4	UTSW	14	30891402	missense	probably damaging	1.00
R4422:Itih4	UTSW	14	30889864	missense	probably damaging	1.00
R4553:Itih4	UTSW	14	30900953	missense	probably damaging	1.00
R4581:Itih4	UTSW	14	30900968	missense	probably benign	0.01
R4608:Itih4	UTSW	14	30901669	missense	probably damaging	1.00
R4609:Itih4	UTSW	14	30901669	missense	probably damaging	1.00
R4726:Itih4	UTSW	14	30889835	missense	probably damaging	1.00
R4790:Itih4	UTSW	14	30889910	missense	probably damaging	1.00
R4975:Itih4	UTSW	14	30892287	missense	probably damaging	1.00
R5004:Itih4	UTSW	14	30892672	missense	probably damaging	1.00
R5911:Itih4	UTSW	14	30890655	missense	possibly damaging	0.90
R6014:Itih4	UTSW	14	30892629	missense	probably benign	0.01
R6957:Itih4	UTSW	14	30892603	missense	probably damaging	1.00
R7012:Itih4	UTSW	14	30890749	missense	probably benign	0.16
R7075:Itih4	UTSW	14	30892603	missense	probably damaging	1.00
R7195:Itih4	UTSW	14	30899475	missense	probably damaging	1.00
R7231:Itih4	UTSW	14	30896614	missense	probably benign	0.17
R7509:Itih4	UTSW	14	30895447	missense	probably benign	0.08
R7819:Itih4	UTSW	14	30901663	missense	probably benign	0.00
R7967:Itih4	UTSW	14	30892413	missense	probably damaging	1.00
R8084:Itih4	UTSW	14	30899443	missense	possibly damaging	0.95
R8257:Itih4	UTSW	14	30887868	missense	possibly damaging	0.93
R8534:Itih4	UTSW	14	30901022	missense	probably benign	0.13
R8797:Itih4	UTSW	14	30896572	missense	probably benign	0.00
R8886:Itih4	UTSW	14	30895525	nonsense	probably null
R9006:Itih4	UTSW	14	30890129	missense	probably damaging	1.00
R9035:Itih4	UTSW	14	30896693	missense	probably benign	0.00
R9377:Itih4	UTSW	14	30886576	missense	probably damaging	1.00
Z1176:Itih4	UTSW	14	30899462	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCACTGCTGACTATACAGCAAC -3'
(R):5'- TCTGAAGCAATGGAGGCTGAGACC -3'

Sequencing Primer
(F):5'- GTGACACCATTGAGCCCTTTTAG -3'
(R):5'- AGGCTGAGACCCAGCCC -3'

Posted On

2013-10-16