Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00776:Itih4'

11512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itih4

Ensembl Gene

ENSMUSG00000021922

Gene Name

inter alpha-trypsin inhibitor, heavy chain 4

Synonyms

Itih-4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00776

Quality Score

Status

Chromosome

Chromosomal Location

30608433-30623943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30611561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 95 (V95I)

Ref Sequence

ENSEMBL: ENSMUSP00000006703 (fasta)

Gene Model

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

AlphaFold

A6X935

Predicted Effect

probably benign
Transcript: ENSMUST00000006703
AA Change: V95I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: V95I

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

probably benign
Transcript: ENSMUST00000078490
AA Change: V95I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: V95I

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

probably benign
Transcript: ENSMUST00000120269
AA Change: V95I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: V95I

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

probably benign
Transcript: ENSMUST00000168782
AA Change: V95I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: V95I

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

Coding Region Coverage

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,545,182 (GRCm39)	D90E	probably benign	Het
Abcb5	T	C	12: 118,883,589 (GRCm39)	S560G	probably damaging	Het
Ankrd24	A	C	10: 81,478,979 (GRCm39)		probably benign	Het
Atp8a1	A	T	5: 67,906,486 (GRCm39)	I461N	probably benign	Het
Eif4a1	G	A	11: 69,559,922 (GRCm39)	L166F	probably damaging	Het
Herc1	T	A	9: 66,328,320 (GRCm39)	H1542Q	probably benign	Het
Kcnh7	A	G	2: 62,680,720 (GRCm39)	I289T	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Mterf1a	A	C	5: 3,941,809 (GRCm39)	W20G	possibly damaging	Het
Slc24a5	T	C	2: 124,922,809 (GRCm39)	S161P	probably damaging	Het
Slc25a21	G	A	12: 56,816,990 (GRCm39)	T99I	probably benign	Het
Smurf1	A	G	5: 144,818,584 (GRCm39)	S619P	probably benign	Het
Sorbs1	C	T	19: 40,332,795 (GRCm39)		probably null	Het
Strn4	C	T	7: 16,564,377 (GRCm39)	R185C	probably damaging	Het
Tctn3	A	G	19: 40,585,865 (GRCm39)	F560S	probably damaging	Het

Other mutations in Itih4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Itih4	APN	14	30,617,426 (GRCm39)	missense	probably damaging	0.97
IGL01309:Itih4	APN	14	30,613,706 (GRCm39)	missense	probably damaging	1.00
IGL01433:Itih4	APN	14	30,617,405 (GRCm39)	missense	probably benign	0.01
IGL01598:Itih4	APN	14	30,609,774 (GRCm39)	missense	possibly damaging	0.92
IGL02332:Itih4	APN	14	30,609,817 (GRCm39)	missense	probably damaging	1.00
IGL03075:Itih4	APN	14	30,614,240 (GRCm39)	missense	probably benign	0.02
IGL03304:Itih4	APN	14	30,620,006 (GRCm39)	missense	probably damaging	0.98
IGL03353:Itih4	APN	14	30,609,801 (GRCm39)	missense	probably damaging	1.00
IGL03396:Itih4	APN	14	30,609,906 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Itih4	UTSW	14	30,623,127 (GRCm39)	missense	probably benign	0.29
R0304:Itih4	UTSW	14	30,612,051 (GRCm39)	splice site	probably null
R0477:Itih4	UTSW	14	30,611,631 (GRCm39)	missense	probably damaging	1.00
R0783:Itih4	UTSW	14	30,617,380 (GRCm39)	missense	possibly damaging	0.84
R0882:Itih4	UTSW	14	30,614,231 (GRCm39)	missense	probably damaging	1.00
R1118:Itih4	UTSW	14	30,618,124 (GRCm39)	splice site	probably benign
R1126:Itih4	UTSW	14	30,611,918 (GRCm39)	critical splice donor site	probably null
R1238:Itih4	UTSW	14	30,609,906 (GRCm39)	missense	probably damaging	1.00
R1456:Itih4	UTSW	14	30,614,610 (GRCm39)	missense	probably benign	0.31
R1573:Itih4	UTSW	14	30,619,504 (GRCm39)	missense	probably benign	0.00
R1695:Itih4	UTSW	14	30,613,456 (GRCm39)	critical splice donor site	probably null
R2085:Itih4	UTSW	14	30,614,280 (GRCm39)	missense	possibly damaging	0.91
R2093:Itih4	UTSW	14	30,613,694 (GRCm39)	missense	probably damaging	1.00
R2213:Itih4	UTSW	14	30,612,670 (GRCm39)	missense	probably damaging	0.99
R2249:Itih4	UTSW	14	30,621,351 (GRCm39)	nonsense	probably null
R2267:Itih4	UTSW	14	30,614,385 (GRCm39)	missense	probably damaging	1.00
R2268:Itih4	UTSW	14	30,614,385 (GRCm39)	missense	probably damaging	1.00
R2508:Itih4	UTSW	14	30,617,435 (GRCm39)	missense	probably damaging	1.00
R3724:Itih4	UTSW	14	30,614,541 (GRCm39)	missense	possibly damaging	0.60
R3859:Itih4	UTSW	14	30,614,286 (GRCm39)	missense	probably damaging	1.00
R4042:Itih4	UTSW	14	30,616,995 (GRCm39)	missense	probably damaging	1.00
R4044:Itih4	UTSW	14	30,616,995 (GRCm39)	missense	probably damaging	1.00
R4246:Itih4	UTSW	14	30,613,359 (GRCm39)	missense	probably damaging	1.00
R4422:Itih4	UTSW	14	30,611,821 (GRCm39)	missense	probably damaging	1.00
R4553:Itih4	UTSW	14	30,622,910 (GRCm39)	missense	probably damaging	1.00
R4581:Itih4	UTSW	14	30,622,925 (GRCm39)	missense	probably benign	0.01
R4608:Itih4	UTSW	14	30,623,626 (GRCm39)	missense	probably damaging	1.00
R4609:Itih4	UTSW	14	30,623,626 (GRCm39)	missense	probably damaging	1.00
R4726:Itih4	UTSW	14	30,611,792 (GRCm39)	missense	probably damaging	1.00
R4790:Itih4	UTSW	14	30,611,867 (GRCm39)	missense	probably damaging	1.00
R4975:Itih4	UTSW	14	30,614,244 (GRCm39)	missense	probably damaging	1.00
R5004:Itih4	UTSW	14	30,614,629 (GRCm39)	missense	probably damaging	1.00
R5911:Itih4	UTSW	14	30,612,612 (GRCm39)	missense	possibly damaging	0.90
R6014:Itih4	UTSW	14	30,614,586 (GRCm39)	missense	probably benign	0.01
R6957:Itih4	UTSW	14	30,614,560 (GRCm39)	missense	probably damaging	1.00
R7012:Itih4	UTSW	14	30,612,706 (GRCm39)	missense	probably benign	0.16
R7075:Itih4	UTSW	14	30,614,560 (GRCm39)	missense	probably damaging	1.00
R7195:Itih4	UTSW	14	30,621,432 (GRCm39)	missense	probably damaging	1.00
R7231:Itih4	UTSW	14	30,618,571 (GRCm39)	missense	probably benign	0.17
R7509:Itih4	UTSW	14	30,617,404 (GRCm39)	missense	probably benign	0.08
R7819:Itih4	UTSW	14	30,623,620 (GRCm39)	missense	probably benign	0.00
R7967:Itih4	UTSW	14	30,614,370 (GRCm39)	missense	probably damaging	1.00
R8084:Itih4	UTSW	14	30,621,400 (GRCm39)	missense	possibly damaging	0.95
R8257:Itih4	UTSW	14	30,609,825 (GRCm39)	missense	possibly damaging	0.93
R8534:Itih4	UTSW	14	30,622,979 (GRCm39)	missense	probably benign	0.13
R8797:Itih4	UTSW	14	30,618,529 (GRCm39)	missense	probably benign	0.00
R8886:Itih4	UTSW	14	30,617,482 (GRCm39)	nonsense	probably null
R9006:Itih4	UTSW	14	30,612,086 (GRCm39)	missense	probably damaging	1.00
R9035:Itih4	UTSW	14	30,618,650 (GRCm39)	missense	probably benign	0.00
R9377:Itih4	UTSW	14	30,608,533 (GRCm39)	missense	probably damaging	1.00
Z1176:Itih4	UTSW	14	30,621,419 (GRCm39)	frame shift	probably null

Posted On

2012-12-06