Incidental Mutation 'R1671:Itih5'
ID 187594
Institutional Source Beutler Lab
Gene Symbol Itih5
Ensembl Gene ENSMUSG00000025780
Gene Name inter-alpha-trypsin inhibitor, heavy chain 5
Synonyms 4631408O11Rik, 5430408M01Rik
MMRRC Submission 039707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1671 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 10158382-10261340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10191782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 106 (V106L)
Ref Sequence ENSEMBL: ENSMUSP00000026886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026886]
AlphaFold Q8BJD1
Predicted Effect probably benign
Transcript: ENSMUST00000026886
AA Change: V106L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: V106L

DomainStartEndE-ValueType
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 0.1227 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (70/70)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A C 14: 64,210,637 (GRCm39) L197R probably benign Het
Arglu1 A G 8: 8,733,896 (GRCm39) V140A possibly damaging Het
Arhgef28 T C 13: 98,067,542 (GRCm39) E1461G possibly damaging Het
Best3 A T 10: 116,860,573 (GRCm39) D611V possibly damaging Het
Cenpf T C 1: 189,411,341 (GRCm39) probably null Het
Cenpj A C 14: 56,802,502 (GRCm39) M21R probably damaging Het
Cltc A T 11: 86,623,421 (GRCm39) H201Q possibly damaging Het
Col28a1 A T 6: 8,083,773 (GRCm39) N561K possibly damaging Het
Cyp2c70 G A 19: 40,142,081 (GRCm39) P470L probably damaging Het
Cyp4f14 G A 17: 33,135,883 (GRCm39) probably benign Het
Ddi1 A T 9: 6,266,225 (GRCm39) V48D possibly damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dnah9 A G 11: 65,818,789 (GRCm39) V3183A probably damaging Het
Elmo1 T A 13: 20,472,054 (GRCm39) probably benign Het
Fap T A 2: 62,384,179 (GRCm39) Y9F possibly damaging Het
Fbxo15 T A 18: 84,977,231 (GRCm39) S93T possibly damaging Het
Gal3st2 C T 1: 93,801,400 (GRCm39) R19C probably damaging Het
Gmnn A T 13: 24,936,054 (GRCm39) *207R probably null Het
Gucy1a1 A C 3: 82,013,529 (GRCm39) I371S probably damaging Het
H1f11-ps C A 19: 47,159,294 (GRCm39) V94L possibly damaging Het
Igsf10 G T 3: 59,235,921 (GRCm39) S1420* probably null Het
Itsn1 T A 16: 91,609,038 (GRCm39) I201K probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lars2 C T 9: 123,247,344 (GRCm39) T283I probably benign Het
Loxhd1 T C 18: 77,492,498 (GRCm39) I1313T probably damaging Het
Mamdc4 T A 2: 25,458,235 (GRCm39) R368* probably null Het
Mdga1 A T 17: 30,069,603 (GRCm39) Y422N probably damaging Het
Mro A T 18: 74,003,126 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Nlrp1b C A 11: 71,092,085 (GRCm39) V14L probably benign Het
Nos3 A G 5: 24,588,838 (GRCm39) D1157G probably damaging Het
Nrxn2 C A 19: 6,523,780 (GRCm39) R598S probably damaging Het
Or2av9 A T 11: 58,381,435 (GRCm39) W49R possibly damaging Het
Or4k1 T C 14: 50,377,290 (GRCm39) K269E probably damaging Het
Or52ae9 C A 7: 103,389,617 (GRCm39) A277S possibly damaging Het
Or8b101 A G 9: 38,020,428 (GRCm39) M144V probably benign Het
Otog A T 7: 45,911,210 (GRCm39) D687V probably damaging Het
Pcsk5 C T 19: 17,432,232 (GRCm39) C1461Y probably damaging Het
Raet1d A G 10: 22,238,614 (GRCm39) M1V probably null Het
Rnf6 A T 5: 146,147,998 (GRCm39) L340* probably null Het
Rsl1d1 T C 16: 11,019,245 (GRCm39) T99A probably damaging Het
Sbno1 A T 5: 124,530,130 (GRCm39) probably null Het
Sipa1l1 A G 12: 82,444,235 (GRCm39) Y982C probably damaging Het
Sorbs3 G T 14: 70,428,915 (GRCm39) R417S possibly damaging Het
Sorl1 A G 9: 41,885,296 (GRCm39) C2102R probably damaging Het
Sp140l2 C T 1: 85,235,106 (GRCm39) probably null Het
Sptbn1 T A 11: 30,092,245 (GRCm39) I494F possibly damaging Het
Tank T A 2: 61,480,097 (GRCm39) V211E probably damaging Het
Tbcd T A 11: 121,488,120 (GRCm39) D840E probably benign Het
Tg T A 15: 66,564,236 (GRCm39) C1146S possibly damaging Het
Tiam2 A T 17: 3,557,109 (GRCm39) E110V probably damaging Het
Tle4 A T 19: 14,431,103 (GRCm39) W560R probably damaging Het
Triml2 G A 8: 43,636,780 (GRCm39) R76H possibly damaging Het
Ttn T C 2: 76,541,964 (GRCm39) E25347G probably damaging Het
Ube2e2 A G 14: 18,586,889 (GRCm38) L124P probably damaging Het
Vmn2r81 A G 10: 79,103,265 (GRCm39) K153E probably benign Het
Wnt16 A T 6: 22,298,178 (GRCm39) Y348F probably damaging Het
Xpo6 A G 7: 125,707,715 (GRCm39) V897A possibly damaging Het
Zbtb26 T C 2: 37,326,377 (GRCm39) T220A probably benign Het
Zik1 A T 7: 10,224,675 (GRCm39) S141T probably damaging Het
Zkscan3 A G 13: 21,580,305 (GRCm39) Y128H possibly damaging Het
Other mutations in Itih5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Itih5 APN 2 10,195,100 (GRCm39) missense probably damaging 1.00
IGL02125:Itih5 APN 2 10,245,798 (GRCm39) missense probably benign
IGL02370:Itih5 APN 2 10,191,786 (GRCm39) missense probably benign 0.05
IGL03376:Itih5 APN 2 10,211,584 (GRCm39) missense probably benign 0.12
IGL02991:Itih5 UTSW 2 10,256,162 (GRCm39) missense probably benign 0.01
R0090:Itih5 UTSW 2 10,169,495 (GRCm39) missense probably benign 0.03
R0096:Itih5 UTSW 2 10,256,189 (GRCm39) missense probably benign 0.02
R0096:Itih5 UTSW 2 10,256,189 (GRCm39) missense probably benign 0.02
R0158:Itih5 UTSW 2 10,239,803 (GRCm39) splice site probably benign
R0270:Itih5 UTSW 2 10,256,075 (GRCm39) missense probably benign 0.38
R0276:Itih5 UTSW 2 10,190,375 (GRCm39) missense possibly damaging 0.80
R0807:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0810:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0903:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0905:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0906:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R1104:Itih5 UTSW 2 10,256,323 (GRCm39) missense probably benign 0.03
R1397:Itih5 UTSW 2 10,245,618 (GRCm39) missense probably benign 0.14
R1971:Itih5 UTSW 2 10,243,379 (GRCm39) missense probably damaging 1.00
R3684:Itih5 UTSW 2 10,243,435 (GRCm39) missense possibly damaging 0.93
R3685:Itih5 UTSW 2 10,243,435 (GRCm39) missense possibly damaging 0.93
R3831:Itih5 UTSW 2 10,256,081 (GRCm39) missense possibly damaging 0.95
R3934:Itih5 UTSW 2 10,250,355 (GRCm39) missense probably damaging 0.98
R4670:Itih5 UTSW 2 10,195,180 (GRCm39) missense probably benign 0.01
R4803:Itih5 UTSW 2 10,245,392 (GRCm39) missense probably benign
R4950:Itih5 UTSW 2 10,239,892 (GRCm39) missense probably damaging 0.98
R5020:Itih5 UTSW 2 10,245,315 (GRCm39) splice site probably null
R5735:Itih5 UTSW 2 10,245,572 (GRCm39) missense probably benign 0.00
R6454:Itih5 UTSW 2 10,245,479 (GRCm39) missense probably benign
R6662:Itih5 UTSW 2 10,253,992 (GRCm39) missense probably benign 0.13
R7019:Itih5 UTSW 2 10,195,138 (GRCm39) missense probably damaging 1.00
R7068:Itih5 UTSW 2 10,254,115 (GRCm39) missense probably damaging 0.99
R7246:Itih5 UTSW 2 10,191,873 (GRCm39) splice site probably null
R7424:Itih5 UTSW 2 10,250,448 (GRCm39) missense probably damaging 1.00
R7452:Itih5 UTSW 2 10,243,607 (GRCm39) missense probably damaging 1.00
R7597:Itih5 UTSW 2 10,254,187 (GRCm39) missense probably damaging 1.00
R8025:Itih5 UTSW 2 10,245,833 (GRCm39) missense probably benign 0.13
R8253:Itih5 UTSW 2 10,243,406 (GRCm39) missense probably benign 0.06
R8349:Itih5 UTSW 2 10,191,800 (GRCm39) missense probably benign 0.01
R8439:Itih5 UTSW 2 10,239,869 (GRCm39) missense probably benign 0.19
R8449:Itih5 UTSW 2 10,191,800 (GRCm39) missense probably benign 0.01
R8825:Itih5 UTSW 2 10,195,231 (GRCm39) missense probably benign 0.00
R9110:Itih5 UTSW 2 10,191,831 (GRCm39) missense probably benign
R9582:Itih5 UTSW 2 10,195,013 (GRCm39) missense probably benign 0.07
R9744:Itih5 UTSW 2 10,256,221 (GRCm39) missense probably damaging 1.00
X0026:Itih5 UTSW 2 10,243,370 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACTTCAAGGCTGGTGCTGAGTG -3'
(R):5'- GGCTTTCTGCAAAAGGAAAAGAACCC -3'

Sequencing Primer
(F):5'- GTGGAATGCACTCTATCTGCATAC -3'
(R):5'- CCCTTTCAATGGAAGAGTAGAGGC -3'
Posted On 2014-05-09