Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Col26a1'

77897

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

039015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136770613-136912063 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 136794154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106732 (fasta)

Gene Model

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

AlphaFold

Q91VF6

Predicted Effect

probably null
Transcript: ENSMUST00000057497

SMART Domains

Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415

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

probably null
Transcript: ENSMUST00000111103

SMART Domains

Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173496

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,177,824 (GRCm39)	G7D	probably benign	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Asphd2	A	T	5: 112,539,635 (GRCm39)	L66H	probably damaging	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,775 (GRCm39)		probably benign	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Cfap43	C	A	19: 47,804,285 (GRCm39)	V304L	probably benign	Het
Cpa5	T	C	6: 30,623,210 (GRCm39)	S124P	probably damaging	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,998 (GRCm39)	H278R	probably benign	Het
Fhod3	T	A	18: 25,199,275 (GRCm39)	Y649N	probably damaging	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itga2	A	G	13: 114,993,215 (GRCm39)	V800A	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Kcnd2	T	A	6: 21,727,328 (GRCm39)	V627E	probably damaging	Het
Kcnd2	T	C	6: 21,726,238 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,938,519 (GRCm39)		probably null	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Macf1	A	G	4: 123,388,675 (GRCm39)		probably null	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Nfkbia	C	A	12: 55,537,561 (GRCm39)	A211S	probably damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Pmch	A	G	10: 87,927,086 (GRCm39)	I30V	probably benign	Het
Ppat	A	C	5: 77,070,348 (GRCm39)	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rbp3	T	G	14: 33,678,595 (GRCm39)	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,225,049 (GRCm39)	T397A	probably benign	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Sorcs3	G	A	19: 48,475,833 (GRCm39)	V231I	probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,718,925 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Thbs4	T	G	13: 92,894,546 (GRCm39)	D659A	probably damaging	Het
Tmed11	A	T	5: 108,943,175 (GRCm39)	M1K	probably null	Het
Tmpo	A	T	10: 90,997,815 (GRCm39)	C657*	probably null	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,575,822 (GRCm39)	H231L	possibly damaging	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
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
R7848:Col26a1	UTSW	5	136,775,907 (GRCm39)	missense	possibly damaging	0.72
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'- ACGGTGACTGACTTCGCTGAAC -3'
(R):5'- GGCTGTCTCCAAGGTTGCAGAAAG -3'

Sequencing Primer
(F):5'- TGACTTCGCTGAACCAGCC -3'
(R):5'- TGGACCTCAAGGATAGGGC -3'

Posted On

2013-10-16