Incidental Mutation 'R3772:Col4a6'
ID273397
Institutional Source Beutler Lab
Gene Symbol Col4a6
Ensembl Gene ENSMUSG00000031273
Gene Namecollagen, type IV, alpha 6
Synonyms
MMRRC Submission 040748-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3772 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location141165403-141474076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 141172200 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 1416 (G1416C)
Ref Sequence ENSEMBL: ENSMUSP00000098765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101205]
Predicted Effect probably damaging
Transcript: ENSMUST00000101205
AA Change: G1416C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098765
Gene: ENSMUSG00000031273
AA Change: G1416C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Collagen 45 106 2e-10 PFAM
Pfam:Collagen 101 162 7.5e-11 PFAM
Pfam:Collagen 165 222 2.1e-10 PFAM
low complexity region 251 277 N/A INTRINSIC
Pfam:Collagen 282 346 1.8e-11 PFAM
Pfam:Collagen 355 416 1.1e-10 PFAM
low complexity region 421 442 N/A INTRINSIC
Pfam:Collagen 487 551 4e-11 PFAM
Pfam:Collagen 593 654 1.4e-8 PFAM
low complexity region 660 680 N/A INTRINSIC
Pfam:Collagen 707 757 5e-9 PFAM
Pfam:Collagen 755 818 1.8e-10 PFAM
low complexity region 867 885 N/A INTRINSIC
Pfam:Collagen 894 959 1.4e-10 PFAM
low complexity region 990 1002 N/A INTRINSIC
Pfam:Collagen 1010 1075 5.1e-11 PFAM
Pfam:Collagen 1075 1138 3e-10 PFAM
Pfam:Collagen 1132 1192 2e-11 PFAM
Pfam:Collagen 1193 1252 7e-11 PFAM
Pfam:Collagen 1255 1316 3.1e-10 PFAM
Pfam:Collagen 1310 1370 4.8e-11 PFAM
Pfam:Collagen 1375 1433 2.3e-10 PFAM
C4 1467 1574 3.11e-62 SMART
C4 1575 1690 8.66e-70 SMART
Meta Mutation Damage Score 0.5992 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Male mice hemizygous for a knock-out allele are viable, fertile and healthy with no apparent defects in the topology of neuromuscular junctions in the diaphragm muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A T 15: 84,406,685 Y120* probably null Het
Abcb11 T A 2: 69,329,376 probably benign Het
Adgrl1 A G 8: 83,923,004 N97S possibly damaging Het
Aldh1a2 A G 9: 71,252,920 D76G probably damaging Het
Aldh3a1 A G 11: 61,214,605 E179G possibly damaging Het
Ap1g1 A G 8: 109,837,786 D324G probably damaging Het
Arfgap2 A G 2: 91,265,366 T12A probably benign Het
Aurka A G 2: 172,366,960 L85P probably benign Het
Birc6 T A 17: 74,618,429 probably benign Het
Bmp7 A T 2: 172,870,222 I403N probably damaging Het
Carns1 A G 19: 4,170,916 probably benign Het
Ccdc88c G A 12: 100,966,100 probably benign Het
Ccl2 C T 11: 82,036,958 A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Clstn2 A G 9: 97,582,562 I180T probably damaging Het
Col24a1 T C 3: 145,545,286 L1680P probably damaging Het
Ctnna2 T G 6: 76,973,769 N573T probably damaging Het
Cts8 G A 13: 61,250,901 probably benign Het
Cxcl17 A G 7: 25,400,329 probably benign Het
Defb18 T C 1: 18,236,621 H37R possibly damaging Het
Dis3l2 T C 1: 86,854,408 I229T probably benign Het
Dysf G A 6: 84,152,351 S1474N possibly damaging Het
Elf1 T C 14: 79,567,210 V105A possibly damaging Het
F13a1 T C 13: 36,898,134 K532R probably benign Het
Fmn1 T G 2: 113,582,118 S996A probably damaging Het
Focad A C 4: 88,336,161 probably benign Het
Frmd4a A T 2: 4,590,622 E109D probably damaging Het
Frrs1 T G 3: 116,878,387 S45A possibly damaging Het
Gm5422 T A 10: 31,248,514 noncoding transcript Het
Gm5866 T C 5: 52,582,746 noncoding transcript Het
Hmcn2 C T 2: 31,360,896 T790M probably damaging Het
Iglon5 A T 7: 43,480,613 Y42* probably null Het
Khdrbs2 C T 1: 32,244,076 Q90* probably null Het
Krt74 T C 15: 101,762,195 noncoding transcript Het
Lamc2 T A 1: 153,124,251 M1121L probably benign Het
Lrig1 A G 6: 94,605,817 L1073P probably benign Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Man2c1 C A 9: 57,140,377 probably benign Het
Megf10 G A 18: 57,283,862 D768N probably benign Het
Mycbp2 T C 14: 103,133,788 N4108S possibly damaging Het
Nid1 A G 13: 13,476,418 probably benign Het
Nnt A G 13: 119,396,952 V59A probably damaging Het
Nsd1 G A 13: 55,246,673 V696I probably benign Het
Olfr99 T C 17: 37,279,854 T189A probably benign Het
Pag1 G A 3: 9,699,628 T155M probably benign Het
Pgam5 T C 5: 110,265,593 H176R probably damaging Het
Pid1 T C 1: 84,038,197 D149G probably damaging Het
Pkp3 G A 7: 141,082,346 M1I probably null Het
Pld2 C T 11: 70,544,123 probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,428,978 T152A possibly damaging Het
Rab9b T A X: 136,861,449 E67D probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rnf214 T C 9: 45,866,634 M625V possibly damaging Het
Rwdd2a A C 9: 86,574,161 N130T possibly damaging Het
Scn9a T C 2: 66,483,648 N1909D probably benign Het
Sept10 A T 10: 59,176,887 M303K probably damaging Het
Sez6l2 A G 7: 126,959,203 E339G probably damaging Het
Sf3b1 C A 1: 54,999,991 probably benign Het
Ska3 C T 14: 57,810,077 V334I probably benign Het
Srebf2 A G 15: 82,182,108 K579R probably benign Het
St18 A T 1: 6,844,329 K799I probably damaging Het
Strada C T 11: 106,164,822 R333Q probably damaging Het
Stradb A T 1: 58,985,385 I64L probably benign Het
Sun1 A G 5: 139,238,820 probably benign Het
Tecta T C 9: 42,330,996 T2094A probably damaging Het
Tenm4 A T 7: 96,694,880 R227W probably damaging Het
Tnk2 A G 16: 32,679,822 D651G probably damaging Het
Trim43c A T 9: 88,847,757 D417V probably damaging Het
Tsc22d4 T C 5: 137,759,233 L374P possibly damaging Het
Ttn T C 2: 76,771,367 T16872A probably benign Het
Ubr4 T C 4: 139,452,700 V262A possibly damaging Het
Vmn2r60 A T 7: 42,116,556 N29I probably benign Het
Xrn2 T C 2: 147,061,287 V765A probably benign Het
Zbed4 C T 15: 88,780,787 P353S probably benign Het
Zfp251 A G 15: 76,853,636 I414T possibly damaging Het
Zfp426 A T 9: 20,473,117 probably null Het
Zwilch A T 9: 64,156,034 F286I probably benign Het
Other mutations in Col4a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0606:Col4a6 UTSW X 141192223 splice site probably benign
R1540:Col4a6 UTSW X 141227858 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGACAAGAACTCAGCCTGTG -3'
(R):5'- CCATTTCTAAAGAGTGTTTGGAGC -3'

Sequencing Primer
(F):5'- GAGCGACCTCATAGTGGCAAATTTAC -3'
(R):5'- TCTAAAGAGTGTTTGGAGCTAGAG -3'
Posted On2015-03-25