Mutagenetix > Incidental Mutation

Incidental Mutation 'R1187:Col26a1'

102248

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

039259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136770613-136912063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136773020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 385 (H385Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106732 (fasta)

Gene Model

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

AlphaFold

Q91VF6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057497
AA Change: H387Y

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052095
Gene: ENSMUSG00000004415
AA Change: H387Y

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 damaging
Transcript: ENSMUST00000111103
AA Change: H385Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106732
Gene: ENSMUSG00000004415
AA Change: H385Y

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: ENSMUST00000125061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141744

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 89.2%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,478,981 (GRCm39)	M4276I	probably benign	Het
Apol7b	A	T	15: 77,307,603 (GRCm39)	F297L	possibly damaging	Het
Capsl	C	T	15: 9,457,807 (GRCm39)	R9W	probably damaging	Het
Catsperb	T	C	12: 101,591,991 (GRCm39)	V1107A	probably benign	Het
Cip2a	T	A	16: 48,820,656 (GRCm39)	N132K	probably damaging	Het
Clca3a1	T	C	3: 144,715,504 (GRCm39)	I544M	probably benign	Het
Cma2	T	C	14: 56,210,280 (GRCm39)	V55A	probably benign	Het
Col10a1	A	T	10: 34,270,834 (GRCm39)	I269F	probably benign	Het
Ctdp1	A	G	18: 80,492,702 (GRCm39)	Y598H	probably damaging	Het
Dnajc1	A	G	2: 18,289,520 (GRCm39)	S296P	probably benign	Het
Dvl2	A	T	11: 69,896,962 (GRCm39)	T250S	probably benign	Het
Etv1	A	G	12: 38,915,563 (GRCm39)	Y410C	probably damaging	Het
Krcc1	A	T	6: 71,261,612 (GRCm39)	K215*	probably null	Het
Lrr1	A	T	12: 69,221,796 (GRCm39)	T313S	probably benign	Het
Lrrc7	T	A	3: 157,866,039 (GRCm39)	E1234V	probably damaging	Het
Mepe	G	A	5: 104,486,114 (GRCm39)	R418H	probably damaging	Het
Myrfl	G	A	10: 116,667,447 (GRCm39)	T331I	probably damaging	Het
Nbeal1	T	C	1: 60,233,687 (GRCm39)	W26R	probably damaging	Het
Nsrp1	G	A	11: 76,936,853 (GRCm39)	P448S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Olfml2a	A	G	2: 38,849,825 (GRCm39)	N514D	probably damaging	Het
Or2l5	T	C	16: 19,333,796 (GRCm39)	T197A	probably benign	Het
Or2y17	T	G	11: 49,231,417 (GRCm39)	D19E	probably damaging	Het
Pcdhb1	C	T	18: 37,398,597 (GRCm39)	R183C	probably damaging	Het
Phf14	T	G	6: 11,941,495 (GRCm39)	C41G	probably damaging	Het
Pkhd1l1	T	C	15: 44,361,447 (GRCm39)	V499A	possibly damaging	Het
Plcb4	A	G	2: 135,810,314 (GRCm39)	I638V	probably benign	Het
Ppp4c	T	A	7: 126,385,372 (GRCm39)	I296F	probably benign	Het
Prkdc	T	C	16: 15,577,610 (GRCm39)	V2388A	probably damaging	Het
Rgl1	T	C	1: 152,420,184 (GRCm39)	D353G	probably benign	Het
Rnf19b	T	G	4: 128,969,360 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,788,521 (GRCm39)	D190N	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	G	A	5: 14,282,098 (GRCm39)	M411I	probably damaging	Het
Sgsh	A	T	11: 119,237,404 (GRCm39)	Y403*	probably null	Het
Sh2d7	T	A	9: 54,448,471 (GRCm39)	L164Q	probably benign	Het
Slfn8	A	T	11: 82,894,314 (GRCm39)	V775E	probably damaging	Het
Smgc	G	A	15: 91,744,798 (GRCm39)	G287S	probably damaging	Het
Soat1	T	A	1: 156,261,745 (GRCm39)	Y421F	probably damaging	Het
Sri	T	C	5: 8,109,416 (GRCm39)	Y52H	probably damaging	Het
Stat4	C	A	1: 52,115,836 (GRCm39)	Q259K	probably damaging	Het
Trpm5	A	G	7: 142,628,206 (GRCm39)	L1023P	probably damaging	Het
Ush1c	T	A	7: 45,858,338 (GRCm39)	N650I	probably benign	Het
Vmn2r8	G	T	5: 108,951,085 (GRCm39)	S120*	probably null	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp629	A	G	7: 127,209,401 (GRCm39)	S803P	probably benign	Het
Zfp629	T	C	7: 127,211,059 (GRCm39)	K250R	probably damaging	Het
Zfp758	T	A	17: 22,594,171 (GRCm39)	I187N	probably benign	Het
Zfp85	T	A	13: 67,897,835 (GRCm39)	K79I	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
R0836:Col26a1	UTSW	5	136,794,154 (GRCm39)	critical splice donor site	probably null
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'- TTCACCGAGAAGCGTGGGAATCAG -3'
(R):5'- TGTCCACTGTGTTGCATAGCCTG -3'

Sequencing Primer
(F):5'- AATCAGTGGTCAGCGGTC -3'
(R):5'- GTTGCATAGCCTGTGCCC -3'

Posted On

2014-01-15