Mutagenetix > Incidental Mutation

Incidental Mutation 'R7951:Col11a1'

649547

Institutional Source

Beutler Lab

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 #

R7951 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113888864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 302 (D302E)

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092155] [ENSMUST00000123619]

AlphaFold

Q61245

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: D302E

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: D302E

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

SMART Domains

Protein: ENSMUSP00000121027
Gene: ENSMUSG00000027966
AA Change: D314E

Domain	Start	End	E-Value	Type
TSPN	37	228	1.83e-62	SMART
LamG	96	227	5.87e-11	SMART
low complexity region	259	296	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
Pfam:Collagen	446	503	6.9e-10	PFAM
low complexity region	521	538	N/A	INTRINSIC
low complexity region	545	566	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	A	17: 85,004,957 (GRCm39)	G575S	probably damaging	Het
Acacb	G	T	5: 114,326,401 (GRCm39)	A256S	probably damaging	Het
Adamts20	T	C	15: 94,238,947 (GRCm39)	D757G	probably damaging	Het
Adgra3	A	G	5: 50,121,126 (GRCm39)	V834A	probably damaging	Het
Adgrv1	A	G	13: 81,711,689 (GRCm39)	S1096P	probably damaging	Het
Bmal2	T	G	6: 146,714,732 (GRCm39)	L135R	probably damaging	Het
Cct4	T	C	11: 22,940,868 (GRCm39)	S39P	probably benign	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
D5Ertd579e	C	T	5: 36,772,517 (GRCm39)	S626N	probably benign	Het
Dido1	A	T	2: 180,312,674 (GRCm39)	C1074S	probably benign	Het
Dnah17	C	T	11: 118,009,592 (GRCm39)	R660H	possibly damaging	Het
Dnhd1	A	T	7: 105,327,211 (GRCm39)	D720V	probably damaging	Het
Dst	T	C	1: 34,240,267 (GRCm39)	M1872T	probably benign	Het
Enpp2	T	C	15: 54,783,089 (GRCm39)	I13M	probably benign	Het
Fcho1	A	G	8: 72,164,920 (GRCm39)	F454L	probably benign	Het
Gad2	A	G	2: 22,513,499 (GRCm39)	K43R	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Hey1	A	G	3: 8,729,932 (GRCm39)	L175P	possibly damaging	Het
Jade1	G	A	3: 41,546,190 (GRCm39)	V72M	probably damaging	Het
Klhl28	G	A	12: 65,003,875 (GRCm39)	R213W	probably damaging	Het
Kprp	C	T	3: 92,731,637 (GRCm39)	R471H	unknown	Het
Lmtk3	A	T	7: 45,435,030 (GRCm39)	M27L	probably benign	Het
Lrp1	A	T	10: 127,374,933 (GRCm39)	Y4508*	probably null	Het
Lypd5	T	C	7: 24,051,060 (GRCm39)	V57A	probably damaging	Het
Mapk9	T	G	11: 49,754,422 (GRCm39)	S58R	probably damaging	Het
Mycbp2	T	C	14: 103,452,898 (GRCm39)	K1661R	probably damaging	Het
Myl2	C	T	5: 122,244,750 (GRCm39)	A140V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nckap1l	T	C	15: 103,381,542 (GRCm39)	Y428H	probably damaging	Het
Nt5c1a	T	C	4: 123,105,978 (GRCm39)	F144S	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or4c100	A	T	2: 88,356,148 (GRCm39)	T74S	probably damaging	Het
Or5d14	A	T	2: 87,880,601 (GRCm39)	Y122*	probably null	Het
Or5d40	G	T	2: 88,015,616 (GRCm39)	V132F	probably damaging	Het
Pabpc4	T	G	4: 123,177,532 (GRCm39)	V42G	probably damaging	Het
Prrc2a	A	T	17: 35,379,477 (GRCm39)	N311K	unknown	Het
Rcbtb2	A	T	14: 73,403,992 (GRCm39)	R197*	probably null	Het
Rfc4	A	G	16: 22,934,135 (GRCm39)	I222T	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rufy1	T	C	11: 50,321,736 (GRCm39)	D66G	probably benign	Het
Rxfp1	A	T	3: 79,559,682 (GRCm39)	C380S	probably damaging	Het
Scn5a	A	G	9: 119,358,145 (GRCm39)	C699R	probably damaging	Het
Syngap1	G	T	17: 27,185,942 (GRCm39)	A1291S	possibly damaging	Het
Tab1	C	A	15: 80,043,058 (GRCm39)	N417K	probably damaging	Het
Tenm3	A	G	8: 48,763,738 (GRCm39)	V772A	possibly damaging	Het
Tmem25	T	A	9: 44,706,790 (GRCm39)	K285I	probably damaging	Het
Tnks2	A	G	19: 36,839,555 (GRCm39)	N51D		Het
Trpm7	G	A	2: 126,655,188 (GRCm39)	T1250I	possibly damaging	Het
Trpv4	T	C	5: 114,760,871 (GRCm39)	D820G	probably benign	Het
Tsg101	T	A	7: 46,540,891 (GRCm39)	I289L	probably benign	Het
Tubgcp2	C	A	7: 139,587,893 (GRCm39)	R244L	possibly damaging	Het
Vmn1r173	C	A	7: 23,402,680 (GRCm39)	T305K	unknown	Het
Vmn1r53	A	T	6: 90,201,132 (GRCm39)	I64K	possibly damaging	Het
Zfp444	T	C	7: 6,191,185 (GRCm39)	V122A	probably benign	Het
Zfp599	A	G	9: 22,160,764 (GRCm39)	L467P	probably damaging	Het
Zic1	T	C	9: 91,244,654 (GRCm39)	E335G	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
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
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
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'- AAGCCAAACTAGGGGTCCAG -3'
(R):5'- GGCAACTAAAAGGATCCAGTGACTG -3'

Sequencing Primer
(F):5'- TCAAGATCTGTCCTAGATGAGATGG -3'
(R):5'- CCAGTGACTGAGATGCTTTTCCAAG -3'

Posted On

2020-09-15