Incidental Mutation 'R5265:Itga11'
ID 401665
Institutional Source Beutler Lab
Gene Symbol Itga11
Ensembl Gene ENSMUSG00000032243
Gene Name integrin alpha 11
Synonyms 4732459H24Rik
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R5265 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 62585108-62691264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62644694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 215 (H215L)
Ref Sequence ENSEMBL: ENSMUSP00000034774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034774]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034774
AA Change: H215L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: H215L

DomainStartEndE-ValueType
Int_alpha 37 90 3.9e-7 SMART
VWA 162 350 2.74e-38 SMART
Int_alpha 421 472 2.19e-1 SMART
Int_alpha 476 532 3.75e-9 SMART
Int_alpha 538 593 1.39e-12 SMART
Int_alpha 600 654 1.08e0 SMART
transmembrane domain 1142 1164 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159012
Meta Mutation Damage Score 0.1564 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Thrap3 A G 4: 126,061,433 (GRCm39) S774P probably damaging Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L possibly damaging Het
Other mutations in Itga11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Itga11 APN 9 62,676,587 (GRCm39) missense possibly damaging 0.58
IGL01108:Itga11 APN 9 62,664,903 (GRCm39) missense probably benign
IGL01348:Itga11 APN 9 62,651,861 (GRCm39) missense possibly damaging 0.83
IGL01739:Itga11 APN 9 62,681,399 (GRCm39) missense probably benign 0.03
IGL01918:Itga11 APN 9 62,680,278 (GRCm39) missense probably benign 0.05
IGL02237:Itga11 APN 9 62,663,057 (GRCm39) critical splice donor site probably null
IGL02418:Itga11 APN 9 62,651,914 (GRCm39) missense probably benign 0.30
IGL02451:Itga11 APN 9 62,642,635 (GRCm39) missense probably damaging 1.00
sneezy UTSW 9 62,639,391 (GRCm39) missense probably damaging 1.00
PIT4812001:Itga11 UTSW 9 62,639,475 (GRCm39) missense probably damaging 1.00
R0013:Itga11 UTSW 9 62,683,895 (GRCm39) missense possibly damaging 0.89
R0013:Itga11 UTSW 9 62,683,895 (GRCm39) missense possibly damaging 0.89
R0032:Itga11 UTSW 9 62,681,377 (GRCm39) missense probably benign 0.05
R0032:Itga11 UTSW 9 62,681,377 (GRCm39) missense probably benign 0.05
R0101:Itga11 UTSW 9 62,651,768 (GRCm39) missense probably damaging 1.00
R0114:Itga11 UTSW 9 62,667,584 (GRCm39) missense possibly damaging 0.85
R0114:Itga11 UTSW 9 62,642,575 (GRCm39) missense probably damaging 1.00
R0212:Itga11 UTSW 9 62,653,251 (GRCm39) missense probably benign 0.22
R0310:Itga11 UTSW 9 62,667,628 (GRCm39) missense probably damaging 1.00
R0455:Itga11 UTSW 9 62,604,243 (GRCm39) missense probably damaging 1.00
R0558:Itga11 UTSW 9 62,659,570 (GRCm39) missense probably benign 0.01
R0607:Itga11 UTSW 9 62,681,653 (GRCm39) missense probably benign 0.00
R0924:Itga11 UTSW 9 62,683,956 (GRCm39) missense probably benign 0.14
R1085:Itga11 UTSW 9 62,585,252 (GRCm39) missense probably benign 0.03
R1477:Itga11 UTSW 9 62,662,493 (GRCm39) missense probably benign
R1647:Itga11 UTSW 9 62,667,652 (GRCm39) missense probably benign 0.01
R1831:Itga11 UTSW 9 62,689,300 (GRCm39) missense probably damaging 1.00
R1880:Itga11 UTSW 9 62,585,231 (GRCm39) missense probably benign 0.06
R1934:Itga11 UTSW 9 62,651,796 (GRCm39) missense probably damaging 1.00
R2025:Itga11 UTSW 9 62,670,093 (GRCm39) missense probably damaging 1.00
R2046:Itga11 UTSW 9 62,634,979 (GRCm39) missense probably damaging 1.00
R2145:Itga11 UTSW 9 62,639,486 (GRCm39) splice site probably benign
R2922:Itga11 UTSW 9 62,675,912 (GRCm39) splice site probably benign
R3011:Itga11 UTSW 9 62,604,262 (GRCm39) missense probably damaging 0.99
R3158:Itga11 UTSW 9 62,676,560 (GRCm39) missense probably benign 0.02
R3809:Itga11 UTSW 9 62,678,664 (GRCm39) missense probably benign
R3836:Itga11 UTSW 9 62,676,565 (GRCm39) missense probably benign 0.00
R4051:Itga11 UTSW 9 62,662,933 (GRCm39) nonsense probably null
R4190:Itga11 UTSW 9 62,639,391 (GRCm39) missense probably damaging 1.00
R4510:Itga11 UTSW 9 62,668,870 (GRCm39) missense probably damaging 0.96
R4511:Itga11 UTSW 9 62,668,870 (GRCm39) missense probably damaging 0.96
R4678:Itga11 UTSW 9 62,642,639 (GRCm39) missense probably damaging 0.98
R4706:Itga11 UTSW 9 62,662,578 (GRCm39) missense possibly damaging 0.64
R4713:Itga11 UTSW 9 62,673,070 (GRCm39) missense probably damaging 1.00
R4798:Itga11 UTSW 9 62,684,009 (GRCm39) splice site probably null
R4909:Itga11 UTSW 9 62,662,581 (GRCm39) missense probably damaging 1.00
R4915:Itga11 UTSW 9 62,659,530 (GRCm39) nonsense probably null
R4957:Itga11 UTSW 9 62,674,930 (GRCm39) missense probably benign 0.00
R4962:Itga11 UTSW 9 62,668,850 (GRCm39) nonsense probably null
R5081:Itga11 UTSW 9 62,662,478 (GRCm39) missense probably benign 0.13
R5308:Itga11 UTSW 9 62,663,051 (GRCm39) missense probably benign
R5398:Itga11 UTSW 9 62,653,205 (GRCm39) missense probably benign 0.21
R5717:Itga11 UTSW 9 62,659,531 (GRCm39) missense probably benign 0.26
R5885:Itga11 UTSW 9 62,670,132 (GRCm39) missense probably damaging 0.99
R5996:Itga11 UTSW 9 62,662,955 (GRCm39) missense probably benign 0.01
R6394:Itga11 UTSW 9 62,642,548 (GRCm39) splice site probably null
R6751:Itga11 UTSW 9 62,675,866 (GRCm39) missense probably benign 0.02
R7041:Itga11 UTSW 9 62,659,538 (GRCm39) missense probably damaging 1.00
R7264:Itga11 UTSW 9 62,653,190 (GRCm39) missense probably benign 0.02
R7509:Itga11 UTSW 9 62,689,222 (GRCm39) missense probably benign
R7601:Itga11 UTSW 9 62,604,208 (GRCm39) missense probably benign 0.18
R7615:Itga11 UTSW 9 62,651,300 (GRCm39) missense probably benign 0.00
R8263:Itga11 UTSW 9 62,604,262 (GRCm39) missense possibly damaging 0.86
R8285:Itga11 UTSW 9 62,659,540 (GRCm39) missense probably damaging 1.00
R8419:Itga11 UTSW 9 62,662,460 (GRCm39) missense possibly damaging 0.59
R8422:Itga11 UTSW 9 62,674,960 (GRCm39) missense probably benign 0.00
R8469:Itga11 UTSW 9 62,678,680 (GRCm39) missense probably benign 0.00
R8475:Itga11 UTSW 9 62,651,327 (GRCm39) missense probably damaging 1.00
R8871:Itga11 UTSW 9 62,668,823 (GRCm39) nonsense probably null
R8904:Itga11 UTSW 9 62,664,893 (GRCm39) missense probably benign
R8954:Itga11 UTSW 9 62,676,545 (GRCm39) missense possibly damaging 0.58
R8977:Itga11 UTSW 9 62,662,922 (GRCm39) missense probably damaging 0.98
R9011:Itga11 UTSW 9 62,662,909 (GRCm39) missense probably benign 0.43
R9038:Itga11 UTSW 9 62,675,039 (GRCm39) missense possibly damaging 0.90
R9089:Itga11 UTSW 9 62,678,662 (GRCm39) missense probably damaging 1.00
R9262:Itga11 UTSW 9 62,659,678 (GRCm39) splice site probably benign
R9327:Itga11 UTSW 9 62,638,034 (GRCm39) missense probably damaging 1.00
R9487:Itga11 UTSW 9 62,670,171 (GRCm39) missense probably benign 0.35
R9794:Itga11 UTSW 9 62,662,868 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGTCCCAACAAGCCATTCC -3'
(R):5'- TCATAACCAGGAGAGATGACCC -3'

Sequencing Primer
(F):5'- CCAGAACAGCCCATTTCCCTTG -3'
(R):5'- GATGACATCTGAGATTTACACACAC -3'
Posted On 2016-07-06