Mutagenetix > Incidental Mutation

Incidental Mutation 'R7264:Col11a1'

564795

Institutional Source

Beutler Lab

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

MMRRC Submission

045354-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7264 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113979248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1305 (N1305S)

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

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

AlphaFold

Q61245

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: N1305S

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: N1305S

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

unknown
Transcript: ENSMUST00000184978
AA Change: N165S

SMART Domains

Protein: ENSMUSP00000138879
Gene: ENSMUSG00000027966
AA Change: N165S

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	C	A	3: 105,812,141 (GRCm39)	T9K	probably benign	Het
Ankib1	T	A	5: 3,805,739 (GRCm39)	N176I	probably damaging	Het
Ankle2	G	A	5: 110,385,689 (GRCm39)	G346D	probably damaging	Het
Anks1b	T	A	10: 90,348,732 (GRCm39)	M800K	probably benign	Het
Arhgef16	C	T	4: 154,365,387 (GRCm39)	G576D	probably damaging	Het
C2cd2	C	A	16: 97,677,419 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,579,156 (GRCm39)	N1847S		Het
Camta1	A	G	4: 151,537,856 (GRCm39)	I108T	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Cep192	A	G	18: 67,953,426 (GRCm39)	Y481C	probably damaging	Het
Cep250	A	G	2: 155,821,071 (GRCm39)	E887G	probably damaging	Het
Clcn1	C	A	6: 42,275,772 (GRCm39)	A298D	probably damaging	Het
Depdc5	T	C	5: 33,125,089 (GRCm39)	V1155A	probably benign	Het
Dnah1	A	T	14: 30,991,851 (GRCm39)	D3050E	probably benign	Het
Dnah7a	T	C	1: 53,557,973 (GRCm39)	D2147G	probably benign	Het
Fbxl4	T	C	4: 22,386,145 (GRCm39)	Y251H	possibly damaging	Het
Gm19410	A	G	8: 36,252,920 (GRCm39)	M622V	probably benign	Het
Gm3402	T	A	5: 146,451,472 (GRCm39)	M110K	probably damaging	Het
Gm8257	T	A	14: 44,893,817 (GRCm39)	E82D	probably damaging	Het
Gne	T	A	4: 44,042,175 (GRCm39)	I498F	probably damaging	Het
Grep1	A	G	17: 23,931,308 (GRCm39)	S200P	not run	Het
Gstcd	C	T	3: 132,790,540 (GRCm39)	V76I	probably benign	Het
Hgs	G	T	11: 120,365,139 (GRCm39)	V176L	probably benign	Het
Hrob	T	A	11: 102,146,422 (GRCm39)	C233S	probably benign	Het
Igbp1b	T	C	6: 138,635,108 (GRCm39)	N112S	possibly damaging	Het
Itga11	A	T	9: 62,653,190 (GRCm39)	T355S	probably benign	Het
Lama1	A	T	17: 68,050,292 (GRCm39)	H301L		Het
Lhx9	T	C	1: 138,760,489 (GRCm39)	D296G	probably damaging	Het
Lrp1	C	T	10: 127,427,962 (GRCm39)	G537D	probably damaging	Het
Mroh2b	A	G	15: 4,950,844 (GRCm39)	I581V	possibly damaging	Het
Mrps36	A	G	13: 100,875,707 (GRCm39)	S36P	probably benign	Het
Or52z13	T	A	7: 103,246,955 (GRCm39)	I144N	probably damaging	Het
Plcb4	A	T	2: 135,807,000 (GRCm39)	N547I	probably benign	Het
Plch2	T	A	4: 155,083,424 (GRCm39)	M505L	probably damaging	Het
Prg4	T	A	1: 150,329,818 (GRCm39)	N154Y	not run	Het
Rev1	A	T	1: 38,124,682 (GRCm39)	V420D	probably damaging	Het
Rin3	A	G	12: 102,356,374 (GRCm39)	I972V	probably benign	Het
Rtel1	T	C	2: 180,993,654 (GRCm39)	L775P	not run	Het
Scarf2	G	T	16: 17,621,154 (GRCm39)	C274F	possibly damaging	Het
Serinc2	C	T	4: 130,152,052 (GRCm39)	V271I	probably benign	Het
Slpi	C	A	2: 164,198,322 (GRCm39)		probably benign	Het
Spopfm1	C	T	3: 94,173,045 (GRCm39)	H14Y	possibly damaging	Het
Stxbp6	T	C	12: 44,948,782 (GRCm39)	D109G	probably damaging	Het
Tmem74	G	A	15: 43,730,864 (GRCm39)	L60F	probably benign	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trrap	T	C	5: 144,751,333 (GRCm39)	S1610P	probably benign	Het
Ttc33	C	T	15: 5,246,718 (GRCm39)	Q175*	probably null	Het
Usp34	A	G	11: 23,283,566 (GRCm39)	T106A	probably benign	Het
Vmn1r204	A	G	13: 22,741,167 (GRCm39)	D266G	probably benign	Het
Wdfy3	C	A	5: 102,003,389 (GRCm39)	A2905S	probably benign	Het
Wfs1	A	G	5: 37,125,190 (GRCm39)	L567P	probably damaging	Het
Zfp42	T	C	8: 43,749,312 (GRCm39)	E63G	probably damaging	Het
Zfp957	A	G	14: 79,451,080 (GRCm39)	F240L	probably damaging	Het
Zgrf1	A	T	3: 127,357,218 (GRCm39)	M815L	probably benign	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
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
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'- ATGCAGAATATAGACTCCAGTACCAG -3'
(R):5'- GCTGGTTAGATATGTGCTCCAG -3'

Sequencing Primer
(F):5'- TTCCAGCCCACAGTACTAATGTG -3'
(R):5'- GGTTAGATATGTGCTCCAGATAGAAG -3'

Posted On

2019-06-26