Mutagenetix > Incidental Mutation

Incidental Mutation 'R7848:Col26a1'

606726

Institutional Source

Beutler Lab

Gene Symbol

Col26a1

Ensembl Gene

ENSMUSG00000004415

Gene Name

collagen, type XXVI, alpha 1

Synonyms

Emid2, 9430032K24Rik, Collagen XXVI, Emu2

MMRRC Submission

045902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136770613-136912063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136775907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 349 (K349E)

Ref Sequence

ENSEMBL: ENSMUSP00000052095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057497] [ENSMUST00000111103]

AlphaFold

Q91VF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057497
AA Change: K349E

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: K349E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:EMI	53	123	5.6e-21	PFAM
low complexity region	143	157	N/A	INTRINSIC
Pfam:Collagen	189	252	2e-10	PFAM
Pfam:Collagen	217	273	8.4e-9	PFAM
low complexity region	302	329	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111103
AA Change: K347E

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: K347E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:EMI	52	123	1.2e-27	PFAM
low complexity region	141	155	N/A	INTRINSIC
Pfam:Collagen	187	250	2.1e-10	PFAM
Pfam:Collagen	215	271	8.6e-9	PFAM
Pfam:Collagen	298	335	2.5e-7	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,340,007 (GRCm39)	A2T	probably damaging	Het
Abca3	G	T	17: 24,603,506 (GRCm39)	G566V	probably damaging	Het
Aff4	C	A	11: 53,295,339 (GRCm39)	N846K	probably benign	Het
Aldh1l2	C	T	10: 83,335,707 (GRCm39)	R714Q	probably benign	Het
Cbln1	T	C	8: 88,198,328 (GRCm39)	T126A	probably damaging	Het
Ccdc85a	A	G	11: 28,346,123 (GRCm39)	S446P	possibly damaging	Het
Ccdc87	A	G	19: 4,891,536 (GRCm39)	Q676R	probably damaging	Het
Cenatac	A	G	9: 44,324,939 (GRCm39)	S139P	probably damaging	Het
Col6a5	T	C	9: 105,805,385 (GRCm39)	I1174V	unknown	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,973,557 (GRCm39)	D64G	possibly damaging	Het
Dnajc15	T	C	14: 78,077,643 (GRCm39)	H114R	probably damaging	Het
Espl1	T	C	15: 102,224,961 (GRCm39)	F1390S	probably damaging	Het
F5	T	C	1: 163,989,446 (GRCm39)	I116T	possibly damaging	Het
Fam120b	T	C	17: 15,626,036 (GRCm39)	V463A	possibly damaging	Het
Fat4	A	G	3: 38,942,000 (GRCm39)	M298V	probably benign	Het
Fhad1	A	T	4: 141,632,913 (GRCm39)	M1197K	probably benign	Het
Fn1	T	A	1: 71,689,760 (GRCm39)	I127F	probably damaging	Het
Frmd4a	A	G	2: 4,596,728 (GRCm39)		probably benign	Het
Gabpb2	A	T	3: 95,097,959 (GRCm39)	V238E	probably damaging	Het
Gnpat	C	A	8: 125,613,630 (GRCm39)	Q626K	possibly damaging	Het
Gstm7	A	T	3: 107,835,902 (GRCm39)		probably null	Het
Gys2	G	T	6: 142,391,741 (GRCm39)	S507*	probably null	Het
Ippk	T	A	13: 49,596,972 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,196,548 (GRCm39)	N623I	probably damaging	Het
Kcnb1	A	G	2: 166,948,188 (GRCm39)	F220S	probably damaging	Het
Kiz	T	A	2: 146,731,100 (GRCm39)	S197T	probably benign	Het
Klhl42	A	G	6: 147,009,598 (GRCm39)	N479S	probably damaging	Het
Lims2	A	G	18: 32,091,301 (GRCm39)	*60W	probably null	Het
Lrch4	A	G	5: 137,632,116 (GRCm39)	N124S	probably damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k13	T	C	16: 21,724,621 (GRCm39)	V373A	probably damaging	Het
Mapkapk5	A	G	5: 121,683,232 (GRCm39)	I11T	probably benign	Het
Mroh2b	C	T	15: 4,967,861 (GRCm39)	Q967*	probably null	Het
Mthfd1l	A	G	10: 4,033,739 (GRCm39)	T709A	possibly damaging	Het
Muc6	T	C	7: 141,232,188 (GRCm39)	T939A	possibly damaging	Het
Ncam2	C	T	16: 81,287,267 (GRCm39)	H394Y	probably benign	Het
Ncoa7	A	T	10: 30,524,414 (GRCm39)	N161K	possibly damaging	Het
Nr2c1	C	T	10: 94,026,508 (GRCm39)	S461L	probably benign	Het
Nrg3	T	C	14: 38,390,240 (GRCm39)	E323G	probably damaging	Het
Nufip1	G	A	14: 76,351,661 (GRCm39)	R172H	probably damaging	Het
Nup210l	A	G	3: 90,111,212 (GRCm39)	T1705A	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Ogfr	T	C	2: 180,234,226 (GRCm39)	L99P	probably damaging	Het
Or10am5	T	C	7: 6,517,861 (GRCm39)	D189G	probably damaging	Het
Or51a43	T	A	7: 103,717,302 (GRCm39)	N312I	probably benign	Het
Pcare	T	C	17: 72,056,188 (GRCm39)	D1163G	probably benign	Het
Pcdh18	A	T	3: 49,710,446 (GRCm39)	S290T	possibly damaging	Het
Pklr	T	G	3: 89,050,285 (GRCm39)	I378S	possibly damaging	Het
Rbm12	A	T	2: 155,938,136 (GRCm39)	M712K	probably benign	Het
Rnase10	T	C	14: 51,246,970 (GRCm39)	V116A	possibly damaging	Het
Scube3	T	C	17: 28,384,569 (GRCm39)	L621P	probably benign	Het
Slc35e1	T	C	8: 73,246,280 (GRCm39)	I51V	probably benign	Het
Smcr8	A	G	11: 60,670,750 (GRCm39)	T633A	probably benign	Het
St18	T	C	1: 6,927,669 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,044,275 (GRCm39)	I509N	probably damaging	Het
Tmcc2	T	C	1: 132,288,359 (GRCm39)	K443E	probably damaging	Het
Tmem98	T	G	11: 80,710,758 (GRCm39)	V139G	probably damaging	Het
Trgv5	G	A	13: 19,376,849 (GRCm39)	V99I	probably damaging	Het
Ttll1	T	C	15: 83,381,573 (GRCm39)	E232G	probably damaging	Het
Zfp442	T	C	2: 150,253,146 (GRCm39)	N39D	possibly damaging	Het

Other mutations in Col26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02500:Col26a1	APN	5	136,783,193 (GRCm39)	nonsense	probably null
IGL03028:Col26a1	APN	5	136,771,972 (GRCm39)	missense	possibly damaging	0.78
IGL03144:Col26a1	APN	5	136,794,202 (GRCm39)	missense	probably damaging	0.99
Blobology	UTSW	5	136,911,708 (GRCm39)	missense	probably damaging	0.96
rohrschak	UTSW	5	136,865,579 (GRCm39)	missense	probably damaging	0.99
Subjective	UTSW	5	136,775,894 (GRCm39)	missense	probably benign
PIT4514001:Col26a1	UTSW	5	136,780,579 (GRCm39)	missense	probably benign
R0454:Col26a1	UTSW	5	136,783,047 (GRCm39)	missense	probably benign	0.01
R0833:Col26a1	UTSW	5	136,794,154 (GRCm39)	critical splice donor site	probably null
R0836:Col26a1	UTSW	5	136,794,154 (GRCm39)	critical splice donor site	probably null
R1187:Col26a1	UTSW	5	136,773,020 (GRCm39)	missense	probably damaging	0.99
R1236:Col26a1	UTSW	5	136,783,780 (GRCm39)	missense	probably benign
R4646:Col26a1	UTSW	5	136,876,404 (GRCm39)	missense	probably damaging	1.00
R4804:Col26a1	UTSW	5	136,865,579 (GRCm39)	missense	probably damaging	0.99
R5772:Col26a1	UTSW	5	136,876,420 (GRCm39)	nonsense	probably null
R6026:Col26a1	UTSW	5	136,876,354 (GRCm39)	missense	probably damaging	1.00
R6481:Col26a1	UTSW	5	136,773,032 (GRCm39)	missense	probably benign	0.45
R6919:Col26a1	UTSW	5	136,773,088 (GRCm39)	missense	possibly damaging	0.86
R7895:Col26a1	UTSW	5	136,777,031 (GRCm39)	splice site	probably null
R7911:Col26a1	UTSW	5	136,771,952 (GRCm39)	missense	probably damaging	1.00
R8131:Col26a1	UTSW	5	136,775,894 (GRCm39)	missense	probably benign
R8776:Col26a1	UTSW	5	136,911,708 (GRCm39)	missense	probably damaging	0.96
R8776-TAIL:Col26a1	UTSW	5	136,911,708 (GRCm39)	missense	probably damaging	0.96
R9099:Col26a1	UTSW	5	136,777,202 (GRCm39)	missense	probably benign	0.00
R9294:Col26a1	UTSW	5	136,786,608 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCAAGAGTAGCCACCTTGTTGAG -3'
(R):5'- GCAGTCCTTGGGGTAACTCTAC -3'

Sequencing Primer
(F):5'- CCACCTTGTTGAGCTGGAAATTG -3'
(R):5'- AGTCCTTGGGGTAACTCTACATACC -3'

Posted On

2019-12-20