Mutagenetix > Incidental Mutation

Incidental Mutation 'R9377:Itih4'

709727

Institutional Source

Beutler Lab

Gene Symbol

Itih4

Ensembl Gene

ENSMUSG00000021922

Gene Name

inter alpha-trypsin inhibitor, heavy chain 4

Synonyms

Itih-4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9377 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30608433-30623943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30608533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 16 (L16F)

Ref Sequence

ENSEMBL: ENSMUSP00000112798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006703] [ENSMUST00000040715] [ENSMUST00000078490] [ENSMUST00000120269] [ENSMUST00000168782]

AlphaFold

A6X935

Predicted Effect

probably damaging
Transcript: ENSMUST00000006703
AA Change: L16F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006703
Gene: ENSMUSG00000021922
AA Change: L16F

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: ENSMUST00000040715

Predicted Effect

probably damaging
Transcript: ENSMUST00000078490
AA Change: L16F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077580
Gene: ENSMUSG00000021922
AA Change: L16F

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 damaging
Transcript: ENSMUST00000120269
AA Change: L16F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112798
Gene: ENSMUSG00000021922
AA Change: L16F

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 damaging
Transcript: ENSMUST00000168782
AA Change: L16F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125920
Gene: ENSMUSG00000021922
AA Change: L16F

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,273 (GRCm39)	T55A	probably benign	Het
3110070M22Rik	T	A	13: 119,624,822 (GRCm39)		probably benign	Het
Acot12	T	A	13: 91,918,221 (GRCm39)	N171K	probably benign	Het
Adam18	G	A	8: 25,104,859 (GRCm39)	Q652*	probably null	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Aff1	C	T	5: 103,981,685 (GRCm39)	S608L	probably damaging	Het
Amfr	A	T	8: 94,707,018 (GRCm39)	F432L	probably damaging	Het
Ankfn1	G	A	11: 89,332,284 (GRCm39)	L421F	possibly damaging	Het
Ankrd31	T	C	13: 97,014,733 (GRCm39)	V1334A	probably benign	Het
Ascc3	C	T	10: 50,608,858 (GRCm39)	H1534Y	possibly damaging	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atf3	T	C	1: 190,909,510 (GRCm39)	H53R	probably benign	Het
Bsn	C	A	9: 107,990,800 (GRCm39)	V1651F	probably damaging	Het
Bsn	A	T	9: 107,993,361 (GRCm39)	L797Q	probably damaging	Het
Bzw2	T	C	12: 36,180,131 (GRCm39)	D32G	probably damaging	Het
Cacna1e	A	T	1: 154,361,458 (GRCm39)	M531K	possibly damaging	Het
Cep120	A	G	18: 53,851,592 (GRCm39)	F567L	possibly damaging	Het
Cit	T	C	5: 116,084,914 (GRCm39)	I815T	probably benign	Het
Cnot6l	G	T	5: 96,276,826 (GRCm39)	Q121K	probably benign	Het
Col4a2	G	A	8: 11,483,725 (GRCm39)	G882R	probably damaging	Het
Col6a3	A	G	1: 90,743,961 (GRCm39)	F536L	probably damaging	Het
Copg2	T	A	6: 30,793,721 (GRCm39)	H394L	possibly damaging	Het
Cst13	A	G	2: 148,670,165 (GRCm39)	M112V	possibly damaging	Het
Cyp2j7	G	T	4: 96,124,786 (GRCm39)	N37K	probably benign	Het
Cyp2u1	T	A	3: 131,091,449 (GRCm39)	N357I	possibly damaging	Het
Dars1	T	C	1: 128,344,945 (GRCm39)	T4A	probably benign	Het
Dclk1	G	T	3: 55,429,374 (GRCm39)	C414F	possibly damaging	Het
Dmbt1	A	T	7: 130,694,832 (GRCm39)	Y1009F	unknown	Het
Ebf4	T	C	2: 130,148,775 (GRCm39)	Y117H	probably damaging	Het
Eif2b4	A	G	5: 31,348,500 (GRCm39)	Y196H	probably benign	Het
Enpp2	C	T	15: 54,739,080 (GRCm39)	R401H	probably damaging	Het
Epo	T	C	5: 137,484,017 (GRCm39)		probably benign	Het
Gli1	T	A	10: 127,173,359 (GRCm39)	T100S	possibly damaging	Het
Gml2	T	A	15: 74,695,957 (GRCm39)	F117Y	probably benign	Het
Hivep1	T	C	13: 42,335,403 (GRCm39)	V2314A	probably benign	Het
Hspb8	A	G	5: 116,547,487 (GRCm39)	I165T	probably damaging	Het
Itgax	A	T	7: 127,732,849 (GRCm39)	T243S	probably benign	Het
Kmt5a	C	T	5: 124,578,064 (GRCm39)		probably benign	Het
Lamc1	T	C	1: 153,115,009 (GRCm39)	E1089G	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcmbp	A	T	7: 128,317,803 (GRCm39)	N147K	probably benign	Het
Mical2	C	T	7: 111,981,246 (GRCm39)	L407F	probably benign	Het
Mybpc2	A	T	7: 44,158,999 (GRCm39)	V653D	probably benign	Het
Myo3b	G	A	2: 70,069,242 (GRCm39)	V522I	possibly damaging	Het
Nbr1	A	G	11: 101,456,590 (GRCm39)	T156A	possibly damaging	Het
Neb	T	A	2: 52,039,291 (GRCm39)		probably null	Het
Neb	T	A	2: 52,116,546 (GRCm39)	Y964F		Het
Nr2f2	T	A	7: 70,007,856 (GRCm39)	I209F	probably damaging	Het
Nwd2	A	G	5: 63,957,740 (GRCm39)	T357A	probably damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdhb19	T	A	18: 37,632,299 (GRCm39)	V698E	probably damaging	Het
Pcdhga6	C	T	18: 37,841,570 (GRCm39)	P430L	probably damaging	Het
Piezo2	A	G	18: 63,162,156 (GRCm39)	L2225S	possibly damaging	Het
Plekhf1	A	T	7: 37,921,203 (GRCm39)	W122R	probably damaging	Het
Pold3	A	G	7: 99,732,993 (GRCm39)	S418P	possibly damaging	Het
Poldip3	T	C	15: 83,019,589 (GRCm39)	N180S	probably benign	Het
Ppp1r21	C	T	17: 88,852,815 (GRCm39)	R65*	probably null	Het
Ppp1r3d	A	T	2: 178,055,669 (GRCm39)	V111E	probably damaging	Het
Prrg4	T	C	2: 104,669,728 (GRCm39)	I130V	probably benign	Het
Psma5	A	T	3: 108,172,448 (GRCm39)	T55S	probably benign	Het
Rbm5	C	A	9: 107,627,252 (GRCm39)	A440S	probably benign	Het
Rdx	A	G	9: 51,980,168 (GRCm39)	K254E	possibly damaging	Het
Rere	A	C	4: 150,593,342 (GRCm39)	Q312P	unknown	Het
Rest	T	C	5: 77,416,128 (GRCm39)	V114A	possibly damaging	Het
Rufy4	G	T	1: 74,171,879 (GRCm39)	V201L	probably benign	Het
Scyl1	T	C	19: 5,809,023 (GRCm39)	E727G	probably benign	Het
Serpinb6b	T	A	13: 33,152,494 (GRCm39)	M1K	probably null	Het
Sgsm1	C	A	5: 113,436,741 (GRCm39)	V30F	probably damaging	Het
Skap1	A	G	11: 96,644,921 (GRCm39)	D344G	possibly damaging	Het
Slc26a7	T	C	4: 14,516,189 (GRCm39)	T547A	probably benign	Het
Slc6a3	C	A	13: 73,692,966 (GRCm39)	S195R	probably benign	Het
Sorbs1	T	C	19: 40,387,048 (GRCm39)	D6G	probably damaging	Het
Spock3	A	T	8: 63,798,746 (GRCm39)	M253L	probably damaging	Het
Ssh2	A	G	11: 77,298,974 (GRCm39)	Y107C	possibly damaging	Het
Svil	T	C	18: 5,057,294 (GRCm39)	S581P	probably benign	Het
Tbc1d14	T	C	5: 36,662,472 (GRCm39)	T553A	probably benign	Het
Tet3	T	A	6: 83,380,596 (GRCm39)	Q524L	possibly damaging	Het
Uckl1	A	T	2: 181,211,532 (GRCm39)	V456E	probably damaging	Het
Ucp2	T	C	7: 100,146,040 (GRCm39)	F4S	probably benign	Het
Vmn2r77	A	G	7: 86,444,442 (GRCm39)	I32V	probably benign	Het
Vmn2r89	T	A	14: 51,692,601 (GRCm39)	Y135N	probably benign	Het
Vtn	A	G	11: 78,390,587 (GRCm39)	E82G	probably benign	Het
Zfp758	A	G	17: 22,593,925 (GRCm39)	N137S	probably benign	Het
Zgpat	T	A	2: 181,021,646 (GRCm39)	C357*	probably null	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
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
Z1176:Itih4	UTSW	14	30,621,419 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGCTTGGAAACCTGCATTTC -3'
(R):5'- TCTCTGGGTACTGCCTGGTTAC -3'

Sequencing Primer
(F):5'- GGAAACCTGCATTTCCGAGAACTTG -3'
(R):5'- GCGATTAGCAACATGCCCTG -3'

Posted On

2022-04-18