Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Itih4'

37788

Institutional Source

Beutler Lab

Gene Symbol

Itih4

Ensembl Gene

ENSMUSG00000021922

Gene Name

inter alpha-trypsin inhibitor, heavy chain 4

Synonyms

Itih-4

MMRRC Submission

038515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30608433-30623943 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 30612051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125920 (fasta)

Gene Model

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

AlphaFold

A6X935

Predicted Effect

probably null
Transcript: ENSMUST00000006703

SMART Domains

Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922

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 null
Transcript: ENSMUST00000078490

SMART Domains

Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922

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 null
Transcript: ENSMUST00000120269

SMART Domains

Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922

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 null
Transcript: ENSMUST00000168782

SMART Domains

Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Ddx47	A	G	6: 134,994,183 (GRCm39)	I154V	possibly damaging	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	probably benign	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
IGL00776:Itih4	APN	14	30,611,561 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- GGCGACTGGGAATGTATGAGCTAC -3'
(R):5'- TCCTAGAAGGGCACACTGAGCATC -3'

Sequencing Primer
(F):5'- CTGGGAATGTATGAGCTACTCCTC -3'
(R):5'- AGGGAACTCCCAACTGTTTG -3'

Posted On

2013-05-23