Mutagenetix > Incidental Mutations

Incidental Mutation 'RF002:Col11a1'

602549

Institutional Source

Beutler Lab

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.868) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114030540-114220718 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114217001 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1689 (I1689L)

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: I1689L

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: I1689L

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

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Col11a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Col11a1	APN	3	114066533	missense	unknown
IGL00578:Col11a1	APN	3	114194106	missense	possibly damaging	0.95
IGL00742:Col11a1	APN	3	114124315	missense	unknown
IGL01014:Col11a1	APN	3	114123809	splice site	probably benign
IGL01099:Col11a1	APN	3	114112041	nonsense	probably null
IGL01129:Col11a1	APN	3	114185873	splice site	probably benign
IGL01474:Col11a1	APN	3	114217134	utr 3 prime	probably benign
IGL01884:Col11a1	APN	3	114066542	missense	unknown
IGL02104:Col11a1	APN	3	114181397	critical splice donor site	probably null
IGL02715:Col11a1	APN	3	114129409	missense	probably benign	0.06
IGL02978:Col11a1	APN	3	114061562	missense	unknown
IGL03203:Col11a1	APN	3	114212084	missense	possibly damaging	0.91
IGL03240:Col11a1	APN	3	114217210	splice site	probably null
IGL03357:Col11a1	APN	3	114194091	missense	probably damaging	1.00
IGL03390:Col11a1	APN	3	114090253	missense	unknown
gluon	UTSW	3	114217170	utr 3 prime	probably benign
uncovered	UTSW	3	114112467	unclassified	probably benign
R0110:Col11a1	UTSW	3	114105456	splice site	probably benign
R0144:Col11a1	UTSW	3	114113594	missense	unknown
R0432:Col11a1	UTSW	3	114205901	splice site	probably benign
R0468:Col11a1	UTSW	3	114217058	utr 3 prime	probably benign
R0510:Col11a1	UTSW	3	114105456	splice site	probably benign
R0535:Col11a1	UTSW	3	114061535	missense	unknown
R0608:Col11a1	UTSW	3	114218715	utr 3 prime	probably benign
R0826:Col11a1	UTSW	3	114138765	missense	unknown
R0827:Col11a1	UTSW	3	114138765	missense	unknown
R0862:Col11a1	UTSW	3	114138765	missense	unknown
R0863:Col11a1	UTSW	3	114138765	missense	unknown
R0926:Col11a1	UTSW	3	114090180	missense	unknown
R0980:Col11a1	UTSW	3	114138765	missense	unknown
R0981:Col11a1	UTSW	3	114138765	missense	unknown
R1004:Col11a1	UTSW	3	114095022	splice site	probably benign
R1037:Col11a1	UTSW	3	114194152	missense	probably damaging	1.00
R1171:Col11a1	UTSW	3	114066564	missense	unknown
R1316:Col11a1	UTSW	3	114138970	splice site	probably null
R1324:Col11a1	UTSW	3	114030916	missense	unknown
R1338:Col11a1	UTSW	3	114216995	utr 3 prime	probably benign
R1513:Col11a1	UTSW	3	114097154	missense	unknown
R1528:Col11a1	UTSW	3	114216995	utr 3 prime	probably benign
R1567:Col11a1	UTSW	3	114138612	missense	unknown
R1596:Col11a1	UTSW	3	114152613	utr 3 prime	probably benign
R1605:Col11a1	UTSW	3	114131641	missense	probably damaging	1.00
R1624:Col11a1	UTSW	3	114158155	missense	probably damaging	0.97
R1626:Col11a1	UTSW	3	114131569	missense	probably damaging	1.00
R1666:Col11a1	UTSW	3	114061535	missense	unknown
R1806:Col11a1	UTSW	3	114158142	missense	probably damaging	1.00
R2001:Col11a1	UTSW	3	114165293	splice site	probably null
R2084:Col11a1	UTSW	3	114158142	missense	probably damaging	1.00
R2085:Col11a1	UTSW	3	114158142	missense	probably damaging	1.00
R3926:Col11a1	UTSW	3	114090124	splice site	probably benign
R3950:Col11a1	UTSW	3	114121445	critical splice donor site	probably null
R3970:Col11a1	UTSW	3	114097189	missense	unknown
R4171:Col11a1	UTSW	3	114208214	missense	probably damaging	0.99
R4175:Col11a1	UTSW	3	114208223	missense	possibly damaging	0.83
R4176:Col11a1	UTSW	3	114208223	missense	possibly damaging	0.83
R4413:Col11a1	UTSW	3	114108316	missense	unknown
R4540:Col11a1	UTSW	3	114097166	missense	unknown
R5210:Col11a1	UTSW	3	114153157	missense	probably damaging	1.00
R5250:Col11a1	UTSW	3	114217170	utr 3 prime	probably benign
R5335:Col11a1	UTSW	3	114095240	missense	unknown
R5344:Col11a1	UTSW	3	114208362	critical splice donor site	probably null
R5394:Col11a1	UTSW	3	114194184	splice site	probably null
R5687:Col11a1	UTSW	3	114217103	utr 3 prime	probably benign
R5708:Col11a1	UTSW	3	114097094	missense	unknown
R5763:Col11a1	UTSW	3	114094596	intron	probably benign
R5792:Col11a1	UTSW	3	114131593	missense	probably damaging	1.00
R6259:Col11a1	UTSW	3	114138447	missense	probably benign
R6679:Col11a1	UTSW	3	114152719	splice site	probably null
R6738:Col11a1	UTSW	3	114112467	unclassified	probably benign
R6747:Col11a1	UTSW	3	114212450	nonsense	probably null
R6808:Col11a1	UTSW	3	114094944	missense	possibly damaging	0.87
R6861:Col11a1	UTSW	3	114167492	missense	probably damaging	1.00
R7201:Col11a1	UTSW	3	114090157	missense	unknown
R7264:Col11a1	UTSW	3	114185599	missense	unknown
R7393:Col11a1	UTSW	3	114097106	missense	unknown
R7445:Col11a1	UTSW	3	114193929	missense	unknown
R7479:Col11a1	UTSW	3	114102569	missense	unknown
R7548:Col11a1	UTSW	3	114123760	missense	unknown
R7683:Col11a1	UTSW	3	114113736	missense	unknown
R7747:Col11a1	UTSW	3	114102572	missense	unknown
R7809:Col11a1	UTSW	3	114097186	missense	unknown
R8057:Col11a1	UTSW	3	114131614	missense	unknown
X0018:Col11a1	UTSW	3	114112233	unclassified	probably benign
Z1177:Col11a1	UTSW	3	114138921	missense	unknown
Z1177:Col11a1	UTSW	3	114165235	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCTGATAACAAAGCCCC -3'
(R):5'- TCATACAAAGCTTTGATGTGTGGG -3'

Sequencing Primer
(F):5'- TGCTGATAACAAAGCCCCTAACTATG -3'
(R):5'- GGTTGTTCTCATAGGACATTTCC -3'

Posted On

2019-12-04