Mutagenetix > Incidental Mutation

Incidental Mutation 'R0468:Col11a1'

41732

Institutional Source

Beutler Lab

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

MMRRC Submission

038668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

R0468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 114010707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138879 (fasta)

Gene Model

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

AlphaFold

Q61245

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: F1708L

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: F1708L

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

Meta Mutation Damage Score

0.1466

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,240,084 (GRCm39)	H1298R	possibly damaging	Het
5530400C23Rik	T	C	6: 133,271,421 (GRCm39)	L155P	probably benign	Het
6820408C15Rik	A	T	2: 152,283,186 (GRCm39)	R283S	probably benign	Het
Aldh1l2	T	A	10: 83,354,542 (GRCm39)	E104D	probably benign	Het
Anxa3	T	C	5: 96,958,958 (GRCm39)	V22A	probably benign	Het
Bcl7b	T	C	5: 135,209,737 (GRCm39)	F188L	probably benign	Het
Brinp1	T	A	4: 68,681,013 (GRCm39)	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,355,511 (GRCm39)		probably benign	Het
Ccdc180	T	C	4: 45,923,271 (GRCm39)	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,075,750 (GRCm39)	L1294P	probably damaging	Het
Cltc	G	A	11: 86,595,452 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,252,042 (GRCm39)	Y566F	unknown	Het
Dhx29	A	G	13: 113,099,811 (GRCm39)	Q1148R	probably benign	Het
Ehbp1	A	G	11: 22,119,184 (GRCm39)		probably benign	Het
Ehd3	A	G	17: 74,112,374 (GRCm39)	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,226,433 (GRCm39)	V522A	probably benign	Het
Gm4553	C	A	7: 141,719,362 (GRCm39)	C22F	unknown	Het
Hibadh	C	T	6: 52,534,755 (GRCm39)		probably benign	Het
Hspg2	G	A	4: 137,260,840 (GRCm39)	C1613Y	probably damaging	Het
Hydin	G	T	8: 111,139,855 (GRCm39)	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,511,047 (GRCm39)	M401L	probably benign	Het
Igsf8	G	A	1: 172,146,363 (GRCm39)	V454M	probably damaging	Het
Irx4	G	T	13: 73,414,839 (GRCm39)		probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn2	C	T	18: 45,692,538 (GRCm39)	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,203,630 (GRCm39)	R400H	unknown	Het
Lrp6	T	C	6: 134,462,624 (GRCm39)	T679A	possibly damaging	Het
Map9	T	C	3: 82,281,510 (GRCm39)		probably null	Het
Men1	T	A	19: 6,386,953 (GRCm39)	V5E	probably null	Het
Mettl14	T	C	3: 123,165,061 (GRCm39)	D93G	probably damaging	Het
Neb	G	T	2: 52,101,568 (GRCm39)	R4601S	probably damaging	Het
Nell1	A	G	7: 49,878,594 (GRCm39)	T272A	probably damaging	Het
Or10ag53	A	T	2: 87,082,599 (GRCm39)	N106I	probably benign	Het
Or2ak6	A	T	11: 58,592,619 (GRCm39)	I31F	probably damaging	Het
Pclo	C	A	5: 14,727,302 (GRCm39)		probably benign	Het
Pdia5	A	G	16: 35,217,877 (GRCm39)	L502P	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,192,181 (GRCm39)	C803F	probably damaging	Het
Pmfbp1	A	G	8: 110,240,600 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,139,205 (GRCm39)	Y468C	probably damaging	Het
Pxdn	G	T	12: 30,044,485 (GRCm39)	G488W	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sec31b	T	A	19: 44,506,947 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,433,478 (GRCm39)	V1333I	probably benign	Het
Slamf1	A	G	1: 171,619,939 (GRCm39)		probably benign	Het
Slc23a3	T	A	1: 75,109,874 (GRCm39)	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,338,500 (GRCm39)	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500 (GRCm39)	V449D	probably benign	Het
Srp68	A	T	11: 116,139,590 (GRCm39)	I453K	probably damaging	Het
Steap3	A	T	1: 120,162,030 (GRCm39)	V414D	probably damaging	Het
Tagln2	A	G	1: 172,333,788 (GRCm39)	N131D	probably benign	Het
Tmem132d	T	C	5: 128,346,267 (GRCm39)	Y85C	probably damaging	Het
Vcam1	A	T	3: 115,909,595 (GRCm39)	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,219,423 (GRCm39)	T306A	probably benign	Het
Zfyve1	A	T	12: 83,602,048 (GRCm39)		probably benign	Het
Zgrf1	T	A	3: 127,355,690 (GRCm39)	N305K	possibly 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
IGL03240:Col11a1	APN	3	114,010,859 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGGATCACCAAGACCTGGCAGC -3'
(R):5'- AAAAGTACAGTCTGCACTGCCTCTC -3'

Sequencing Primer
(F):5'- CCGCATTCACAGACAGTATTTAATTC -3'
(R):5'- TGCCTCTCAGGCCCAAAAC -3'

Posted On

2013-05-23