Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Col11a1'

175790

Institutional Source

Beutler Lab

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to T at 113946262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092155] [ENSMUST00000211802]

AlphaFold

Q61245

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: P972L

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: P972L

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

noncoding transcript
Transcript: ENSMUST00000138680

Predicted Effect

probably benign
Transcript: ENSMUST00000211802

Meta Mutation Damage Score

0.1208

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

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
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,126,594 (GRCm39)	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,591 (GRCm39)	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Nxpe4	T	A	9: 48,307,855 (GRCm39)	W320R	probably damaging	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sapcd2	T	A	2: 25,266,422 (GRCm39)	I403N	probably damaging	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Slc45a3	T	A	1: 131,909,267 (GRCm39)	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	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
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
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'- CACTGAGCTATTAGCAAGCAGCGAG -3'
(R):5'- ATGGAAAAGCACAGGACTCCCGTG -3'

Sequencing Primer
(F):5'- TATTAGCAAGCAGCGAGTGATCTC -3'
(R):5'- TGGGAAATGATGGGAAGTCCAC -3'

Posted On

2014-04-24