Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Col11a1'

703002

Institutional Source

Beutler Lab

Gene Symbol

Col11a1

Ensembl Gene

ENSMUSG00000027966

Gene Name

collagen, type XI, alpha 1

Synonyms

C530001D20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R9272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113824189-114014367 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 113901948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 548 (G548*)

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

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

AlphaFold

Q61245

Predicted Effect

probably null
Transcript: ENSMUST00000092155
AA Change: G548*

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: G548*

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 null
Transcript: ENSMUST00000123619
AA Change: G560*

SMART Domains

Protein: ENSMUSP00000121027
Gene: ENSMUSG00000027966
AA Change: G560*

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,801 (GRCm39)		probably benign	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
Dok7	G	A	5: 35,214,239 (GRCm39)		probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or4k51	G	A	2: 111,584,965 (GRCm39)	V124M	probably damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,335,691 (GRCm39)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Snx32	T	A	19: 5,548,485 (GRCm39)	H65L	probably damaging	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	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
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
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'- TGCACTTGACTGTCTAGAAGTG -3'
(R):5'- ATGCTGTGGAATTAACCAACTCATG -3'

Sequencing Primer
(F):5'- CACTTGACTGTCTAGAAGTGCTATAC -3'
(R):5'- GGAAATACAGTCTGTACTCCTAA -3'

Posted On

2022-03-25