Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Itih5'

519451

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha (globulin) inhibitor H5

Synonyms

5430408M01Rik, 4631408O11Rik

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10153571-10256529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10240668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 523 (F523L)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026886]

AlphaFold

Q8BJD1

Predicted Effect

probably benign
Transcript: ENSMUST00000026886
AA Change: F523L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: F523L

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
Pfam:VIT	51	159	5.5e-27	PFAM
VWA	293	476	5.84e-24	SMART
Pfam:ITI_HC_C	716	909	1.7e-60	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,628 (GRCm38)	H145P	possibly damaging	Het
Arid2	C	T	15: 96,372,413 (GRCm38)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,370,833 (GRCm38)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,008,499 (GRCm38)		probably null	Het
Casz1	A	T	4: 148,951,495 (GRCm38)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,393,375 (GRCm38)	S100P	probably damaging	Het
Creld2	T	A	15: 88,823,071 (GRCm38)	C197*	probably null	Het
Csmd1	A	T	8: 15,921,150 (GRCm38)	F3055Y	probably damaging	Het
Ddx58	T	A	4: 40,220,456 (GRCm38)	I476F	probably damaging	Het
Dnah11	T	A	12: 117,916,855 (GRCm38)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,783,705 (GRCm38)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,206,808 (GRCm38)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,864,762 (GRCm38)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Faf1	G	T	4: 109,842,334 (GRCm38)	A359S	probably benign	Het
Fam13b	A	G	18: 34,457,662 (GRCm38)		probably null	Het
Fam46b	A	G	4: 133,480,409 (GRCm38)	D37G	probably damaging	Het
Gm14496	A	T	2: 181,996,222 (GRCm38)	N363I	probably damaging	Het
Gm15922	C	G	7: 3,737,320 (GRCm38)	A301P	probably damaging	Het
Gm5346	G	T	8: 43,626,808 (GRCm38)	N126K	probably damaging	Het
Grm8	T	G	6: 27,363,776 (GRCm38)	H580P	possibly damaging	Het
Klhl1	A	T	14: 96,280,091 (GRCm38)	M383K	possibly damaging	Het
Lgi4	A	T	7: 31,060,132 (GRCm38)	T38S	probably benign	Het
Myh13	T	A	11: 67,350,365 (GRCm38)	M856K	probably benign	Het
Myo7a	C	T	7: 98,073,167 (GRCm38)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,385,774 (GRCm38)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,137,406 (GRCm38)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,318,767 (GRCm38)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,709,660 (GRCm38)		probably null	Het
Odf2l	C	A	3: 145,153,420 (GRCm38)	Q517K	possibly damaging	Het
Olfr1013	A	G	2: 85,770,373 (GRCm38)	K191E	probably benign	Het
Olfr1254	T	C	2: 89,789,178 (GRCm38)	Y58C	probably damaging	Het
Olfr1448	T	A	19: 12,920,031 (GRCm38)	N93Y	probably benign	Het
Olfr149	A	G	9: 39,701,834 (GRCm38)	*312Q	probably null	Het
Omd	A	T	13: 49,589,869 (GRCm38)	I132F	probably damaging	Het
Otog	A	G	7: 46,305,817 (GRCm38)	N544D	probably damaging	Het
Ovol3	A	G	7: 30,235,375 (GRCm38)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,529,598 (GRCm38)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,499,269 (GRCm38)	V706L	probably benign	Het
Plekhm1	G	A	11: 103,377,382 (GRCm38)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,537,986 (GRCm38)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm38)	F127L	probably damaging	Het
Rnf5	A	C	17: 34,602,309 (GRCm38)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,400,847 (GRCm38)	M517K	probably damaging	Het
Slc44a5	C	T	3: 154,243,159 (GRCm38)	T188M	probably benign	Het
Smco1	A	G	16: 32,273,223 (GRCm38)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,374,433 (GRCm38)	I77F	probably damaging	Het
Spem2	A	G	11: 69,817,428 (GRCm38)	L237P	probably damaging	Het
Spg7	A	G	8: 123,079,423 (GRCm38)	K291E	possibly damaging	Het
Tiam2	A	T	17: 3,438,663 (GRCm38)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm38)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,876,053 (GRCm38)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,129,018 (GRCm38)	*138R	probably null	Het
Tpst1	A	G	5: 130,102,051 (GRCm38)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,415,840 (GRCm38)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,538,549 (GRCm38)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,838,822 (GRCm38)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,634,746 (GRCm38)		probably benign	Het
Ugt2b37	T	G	5: 87,240,977 (GRCm38)	D459A	probably damaging	Het
Usp35	A	T	7: 97,311,560 (GRCm38)	N886K	probably damaging	Het
Usp35	A	T	7: 97,311,644 (GRCm38)	Y858*	probably null	Het
Wdr33	T	C	18: 31,829,975 (GRCm38)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,997,879 (GRCm38)	T506I	possibly damaging	Het

Other mutations in Itih5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Itih5	APN	2	10,190,289 (GRCm38)	missense	probably damaging	1.00
IGL02125:Itih5	APN	2	10,240,987 (GRCm38)	missense	probably benign
IGL02370:Itih5	APN	2	10,186,975 (GRCm38)	missense	probably benign	0.05
IGL03376:Itih5	APN	2	10,206,773 (GRCm38)	missense	probably benign	0.12
IGL02991:Itih5	UTSW	2	10,251,351 (GRCm38)	missense	probably benign	0.01
R0090:Itih5	UTSW	2	10,164,684 (GRCm38)	missense	probably benign	0.03
R0096:Itih5	UTSW	2	10,251,378 (GRCm38)	missense	probably benign	0.02
R0096:Itih5	UTSW	2	10,251,378 (GRCm38)	missense	probably benign	0.02
R0158:Itih5	UTSW	2	10,234,992 (GRCm38)	splice site	probably benign
R0270:Itih5	UTSW	2	10,251,264 (GRCm38)	missense	probably benign	0.38
R0276:Itih5	UTSW	2	10,185,564 (GRCm38)	missense	possibly damaging	0.80
R0807:Itih5	UTSW	2	10,249,188 (GRCm38)	missense	probably benign	0.00
R0810:Itih5	UTSW	2	10,249,188 (GRCm38)	missense	probably benign	0.00
R0903:Itih5	UTSW	2	10,249,188 (GRCm38)	missense	probably benign	0.00
R0905:Itih5	UTSW	2	10,249,188 (GRCm38)	missense	probably benign	0.00
R0906:Itih5	UTSW	2	10,249,188 (GRCm38)	missense	probably benign	0.00
R1104:Itih5	UTSW	2	10,251,512 (GRCm38)	missense	probably benign	0.03
R1397:Itih5	UTSW	2	10,240,807 (GRCm38)	missense	probably benign	0.14
R1671:Itih5	UTSW	2	10,186,971 (GRCm38)	missense	probably benign	0.03
R1971:Itih5	UTSW	2	10,238,568 (GRCm38)	missense	probably damaging	1.00
R3684:Itih5	UTSW	2	10,238,624 (GRCm38)	missense	possibly damaging	0.93
R3685:Itih5	UTSW	2	10,238,624 (GRCm38)	missense	possibly damaging	0.93
R3831:Itih5	UTSW	2	10,251,270 (GRCm38)	missense	possibly damaging	0.95
R3934:Itih5	UTSW	2	10,245,544 (GRCm38)	missense	probably damaging	0.98
R4670:Itih5	UTSW	2	10,190,369 (GRCm38)	missense	probably benign	0.01
R4803:Itih5	UTSW	2	10,240,581 (GRCm38)	missense	probably benign
R4950:Itih5	UTSW	2	10,235,081 (GRCm38)	missense	probably damaging	0.98
R5020:Itih5	UTSW	2	10,240,504 (GRCm38)	splice site	probably null
R5735:Itih5	UTSW	2	10,240,761 (GRCm38)	missense	probably benign	0.00
R6662:Itih5	UTSW	2	10,249,181 (GRCm38)	missense	probably benign	0.13
R7019:Itih5	UTSW	2	10,190,327 (GRCm38)	missense	probably damaging	1.00
R7068:Itih5	UTSW	2	10,249,304 (GRCm38)	missense	probably damaging	0.99
R7246:Itih5	UTSW	2	10,187,062 (GRCm38)	splice site	probably null
R7424:Itih5	UTSW	2	10,245,637 (GRCm38)	missense	probably damaging	1.00
R7452:Itih5	UTSW	2	10,238,796 (GRCm38)	missense	probably damaging	1.00
R7597:Itih5	UTSW	2	10,249,376 (GRCm38)	missense	probably damaging	1.00
R8025:Itih5	UTSW	2	10,241,022 (GRCm38)	missense	probably benign	0.13
R8253:Itih5	UTSW	2	10,238,595 (GRCm38)	missense	probably benign	0.06
R8349:Itih5	UTSW	2	10,186,989 (GRCm38)	missense	probably benign	0.01
R8439:Itih5	UTSW	2	10,235,058 (GRCm38)	missense	probably benign	0.19
R8449:Itih5	UTSW	2	10,186,989 (GRCm38)	missense	probably benign	0.01
R8825:Itih5	UTSW	2	10,190,420 (GRCm38)	missense	probably benign	0.00
R9110:Itih5	UTSW	2	10,187,020 (GRCm38)	missense	probably benign
R9582:Itih5	UTSW	2	10,190,202 (GRCm38)	missense	probably benign	0.07
R9744:Itih5	UTSW	2	10,251,410 (GRCm38)	missense	probably damaging	1.00
X0026:Itih5	UTSW	2	10,238,559 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTTTCCCTCAGGACTGAC -3'
(R):5'- CTTAGCAGCTCCTTCACAGTGAG -3'

Sequencing Primer
(F):5'- GCCCAGCCAGACCTTGATTC -3'
(R):5'- TTCACAGTGAGGTAGCTCCAAAGTC -3'

Posted On

2018-05-24