Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Col11a1'

414268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 114010859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092155] [ENSMUST00000184978]

AlphaFold

Q61245

Predicted Effect

probably null
Transcript: ENSMUST00000092155

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966

Domain	Start	End	E-Value	Type
TSPN	37	228	1.83e-62	SMART
LamG	96	227	5.87e-11	SMART
low complexity region	256	276	N/A	INTRINSIC
internal_repeat_4	357	431	3.12e-6	PROSPERO
Pfam:Collagen	433	491	2.6e-9	PFAM
Pfam:Collagen	525	586	5.9e-9	PFAM
low complexity region	611	632	N/A	INTRINSIC
low complexity region	638	677	N/A	INTRINSIC
Pfam:Collagen	721	805	3.6e-8	PFAM
internal_repeat_3	814	854	3.55e-9	PROSPERO
internal_repeat_1	818	869	2.01e-16	PROSPERO
low complexity region	872	944	N/A	INTRINSIC
low complexity region	952	1001	N/A	INTRINSIC
low complexity region	1031	1059	N/A	INTRINSIC
low complexity region	1066	1100	N/A	INTRINSIC
low complexity region	1103	1121	N/A	INTRINSIC
internal_repeat_2	1124	1188	2.4e-12	PROSPERO
low complexity region	1189	1205	N/A	INTRINSIC
low complexity region	1211	1232	N/A	INTRINSIC
low complexity region	1235	1250	N/A	INTRINSIC
low complexity region	1252	1368	N/A	INTRINSIC
low complexity region	1373	1392	N/A	INTRINSIC
low complexity region	1417	1448	N/A	INTRINSIC
low complexity region	1453	1463	N/A	INTRINSIC
Pfam:Collagen	1481	1543	8.3e-9	PFAM
COLFI	1574	1803	7.28e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184978

SMART Domains

Protein: ENSMUSP00000138879
Gene: ENSMUSG00000027966

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	57	6.3e-10	PFAM
Pfam:Collagen	49	110	3.2e-10	PFAM
Pfam:Collagen	95	165	6.2e-8	PFAM
Pfam:Collagen	242	318	2.2e-9	PFAM
Pfam:Collagen	289	362	1.6e-7	PFAM
Pfam:Collagen	341	403	2e-9	PFAM
COLFI	434	536	8.88e-12	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of type XI collagen, one of the low abundance fibrillar collagens that is essential for normal embryonic skeletal development and the cohesive properties of cartilage. The encoded protein, in association with the alpha-1 subunit of type II collagen, forms a heterotrimeric type XI procollagen that undergoes proteolytic processing. Mice lacking the encoded protein develop severe chondrodysplasia and die at birth. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Krt40	T	A	11: 99,428,394 (GRCm39)	S333C	probably damaging	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	probably damaging	Het

Other mutations in Col11a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Col11a1	APN	3	113,860,182 (GRCm39)	missense	unknown
IGL00578:Col11a1	APN	3	113,987,755 (GRCm39)	missense	possibly damaging	0.95
IGL00742:Col11a1	APN	3	113,917,964 (GRCm39)	missense	unknown
IGL01014:Col11a1	APN	3	113,917,458 (GRCm39)	splice site	probably benign
IGL01099:Col11a1	APN	3	113,905,690 (GRCm39)	nonsense	probably null
IGL01129:Col11a1	APN	3	113,979,522 (GRCm39)	splice site	probably benign
IGL01474:Col11a1	APN	3	114,010,783 (GRCm39)	utr 3 prime	probably benign
IGL01884:Col11a1	APN	3	113,860,191 (GRCm39)	missense	unknown
IGL02104:Col11a1	APN	3	113,975,046 (GRCm39)	critical splice donor site	probably null
IGL02715:Col11a1	APN	3	113,923,058 (GRCm39)	missense	probably benign	0.06
IGL02978:Col11a1	APN	3	113,855,211 (GRCm39)	missense	unknown
IGL03203:Col11a1	APN	3	114,005,733 (GRCm39)	missense	possibly damaging	0.91
IGL03357:Col11a1	APN	3	113,987,740 (GRCm39)	missense	probably damaging	1.00
IGL03390:Col11a1	APN	3	113,883,902 (GRCm39)	missense	unknown
gluon	UTSW	3	114,010,819 (GRCm39)	utr 3 prime	probably benign
uncovered	UTSW	3	113,906,116 (GRCm39)	unclassified	probably benign
weakforce	UTSW	3	113,907,249 (GRCm39)	missense	unknown
R0110:Col11a1	UTSW	3	113,899,105 (GRCm39)	splice site	probably benign
R0144:Col11a1	UTSW	3	113,907,243 (GRCm39)	missense	unknown
R0432:Col11a1	UTSW	3	113,999,550 (GRCm39)	splice site	probably benign
R0468:Col11a1	UTSW	3	114,010,707 (GRCm39)	utr 3 prime	probably benign
R0510:Col11a1	UTSW	3	113,899,105 (GRCm39)	splice site	probably benign
R0535:Col11a1	UTSW	3	113,855,184 (GRCm39)	missense	unknown
R0608:Col11a1	UTSW	3	114,012,364 (GRCm39)	utr 3 prime	probably benign
R0826:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R0827:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R0862:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R0863:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R0926:Col11a1	UTSW	3	113,883,829 (GRCm39)	missense	unknown
R0980:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R0981:Col11a1	UTSW	3	113,932,414 (GRCm39)	missense	unknown
R1004:Col11a1	UTSW	3	113,888,671 (GRCm39)	splice site	probably benign
R1037:Col11a1	UTSW	3	113,987,801 (GRCm39)	missense	probably damaging	1.00
R1171:Col11a1	UTSW	3	113,860,213 (GRCm39)	missense	unknown
R1316:Col11a1	UTSW	3	113,932,619 (GRCm39)	splice site	probably null
R1324:Col11a1	UTSW	3	113,824,565 (GRCm39)	missense	unknown
R1338:Col11a1	UTSW	3	114,010,644 (GRCm39)	utr 3 prime	probably benign
R1513:Col11a1	UTSW	3	113,890,803 (GRCm39)	missense	unknown
R1528:Col11a1	UTSW	3	114,010,644 (GRCm39)	utr 3 prime	probably benign
R1567:Col11a1	UTSW	3	113,932,261 (GRCm39)	missense	unknown
R1596:Col11a1	UTSW	3	113,946,262 (GRCm39)	utr 3 prime	probably benign
R1605:Col11a1	UTSW	3	113,925,290 (GRCm39)	missense	probably damaging	1.00
R1624:Col11a1	UTSW	3	113,951,804 (GRCm39)	missense	probably damaging	0.97
R1626:Col11a1	UTSW	3	113,925,218 (GRCm39)	missense	probably damaging	1.00
R1666:Col11a1	UTSW	3	113,855,184 (GRCm39)	missense	unknown
R1806:Col11a1	UTSW	3	113,951,791 (GRCm39)	missense	probably damaging	1.00
R2001:Col11a1	UTSW	3	113,958,942 (GRCm39)	splice site	probably null
R2084:Col11a1	UTSW	3	113,951,791 (GRCm39)	missense	probably damaging	1.00
R2085:Col11a1	UTSW	3	113,951,791 (GRCm39)	missense	probably damaging	1.00
R3926:Col11a1	UTSW	3	113,883,773 (GRCm39)	splice site	probably benign
R3950:Col11a1	UTSW	3	113,915,094 (GRCm39)	critical splice donor site	probably null
R3970:Col11a1	UTSW	3	113,890,838 (GRCm39)	missense	unknown
R4171:Col11a1	UTSW	3	114,001,863 (GRCm39)	missense	probably damaging	0.99
R4175:Col11a1	UTSW	3	114,001,872 (GRCm39)	missense	possibly damaging	0.83
R4176:Col11a1	UTSW	3	114,001,872 (GRCm39)	missense	possibly damaging	0.83
R4413:Col11a1	UTSW	3	113,901,965 (GRCm39)	missense	unknown
R4540:Col11a1	UTSW	3	113,890,815 (GRCm39)	missense	unknown
R5210:Col11a1	UTSW	3	113,946,806 (GRCm39)	missense	probably damaging	1.00
R5250:Col11a1	UTSW	3	114,010,819 (GRCm39)	utr 3 prime	probably benign
R5335:Col11a1	UTSW	3	113,888,889 (GRCm39)	missense	unknown
R5344:Col11a1	UTSW	3	114,002,011 (GRCm39)	critical splice donor site	probably null
R5394:Col11a1	UTSW	3	113,987,833 (GRCm39)	splice site	probably null
R5687:Col11a1	UTSW	3	114,010,752 (GRCm39)	utr 3 prime	probably benign
R5708:Col11a1	UTSW	3	113,890,743 (GRCm39)	missense	unknown
R5763:Col11a1	UTSW	3	113,888,245 (GRCm39)	intron	probably benign
R5792:Col11a1	UTSW	3	113,925,242 (GRCm39)	missense	probably damaging	1.00
R6259:Col11a1	UTSW	3	113,932,096 (GRCm39)	missense	probably benign
R6679:Col11a1	UTSW	3	113,946,368 (GRCm39)	splice site	probably null
R6738:Col11a1	UTSW	3	113,906,116 (GRCm39)	unclassified	probably benign
R6747:Col11a1	UTSW	3	114,006,099 (GRCm39)	nonsense	probably null
R6808:Col11a1	UTSW	3	113,888,593 (GRCm39)	missense	possibly damaging	0.87
R6861:Col11a1	UTSW	3	113,961,141 (GRCm39)	missense	probably damaging	1.00
R7201:Col11a1	UTSW	3	113,883,806 (GRCm39)	missense	unknown
R7264:Col11a1	UTSW	3	113,979,248 (GRCm39)	missense	unknown
R7393:Col11a1	UTSW	3	113,890,755 (GRCm39)	missense	unknown
R7445:Col11a1	UTSW	3	113,987,578 (GRCm39)	missense	unknown
R7479:Col11a1	UTSW	3	113,896,218 (GRCm39)	missense	unknown
R7548:Col11a1	UTSW	3	113,917,409 (GRCm39)	missense	unknown
R7683:Col11a1	UTSW	3	113,907,385 (GRCm39)	missense	unknown
R7747:Col11a1	UTSW	3	113,896,221 (GRCm39)	missense	unknown
R7809:Col11a1	UTSW	3	113,890,835 (GRCm39)	missense	unknown
R7951:Col11a1	UTSW	3	113,888,864 (GRCm39)	missense	unknown
R8057:Col11a1	UTSW	3	113,925,263 (GRCm39)	missense	unknown
R8134:Col11a1	UTSW	3	114,012,435 (GRCm39)	missense	unknown
R8139:Col11a1	UTSW	3	113,890,698 (GRCm39)	missense	unknown
R8243:Col11a1	UTSW	3	113,855,141 (GRCm39)	missense	unknown
R8324:Col11a1	UTSW	3	113,958,059 (GRCm39)	missense	probably damaging	1.00
R8346:Col11a1	UTSW	3	114,005,818 (GRCm39)	missense	unknown
R8480:Col11a1	UTSW	3	113,975,043 (GRCm39)	missense	probably benign	0.04
R9113:Col11a1	UTSW	3	113,888,192 (GRCm39)	nonsense	probably null
R9122:Col11a1	UTSW	3	113,907,249 (GRCm39)	missense	unknown
R9137:Col11a1	UTSW	3	113,855,172 (GRCm39)	missense	unknown
R9224:Col11a1	UTSW	3	114,001,929 (GRCm39)	missense	unknown
R9264:Col11a1	UTSW	3	114,005,809 (GRCm39)	missense	unknown
R9272:Col11a1	UTSW	3	113,901,948 (GRCm39)	nonsense	probably null
R9382:Col11a1	UTSW	3	113,899,046 (GRCm39)	missense	unknown
R9492:Col11a1	UTSW	3	114,005,752 (GRCm39)	missense	probably benign	0.39
RF002:Col11a1	UTSW	3	114,010,650 (GRCm39)	missense	unknown
X0018:Col11a1	UTSW	3	113,905,882 (GRCm39)	unclassified	probably benign
Z1177:Col11a1	UTSW	3	113,958,884 (GRCm39)	critical splice acceptor site	probably null
Z1177:Col11a1	UTSW	3	113,932,570 (GRCm39)	missense	unknown

Posted On

2016-08-02