Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Col11a1'

577210

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: 0.914) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114030540-114220718 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114193929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1374 (E1374D)

Ref Sequence

ENSEMBL: ENSMUSP00000089793 (fasta)

Gene Model

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

AlphaFold

Q61245

Predicted Effect

unknown
Transcript: ENSMUST00000092155
AA Change: E1374D

SMART Domains

Protein: ENSMUSP00000089793
Gene: ENSMUSG00000027966
AA Change: E1374D

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

possibly damaging
Transcript: ENSMUST00000184978
AA Change: E234D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138879
Gene: ENSMUSG00000027966
AA Change: E234D

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124	T2208A		Het
Ap4s1	T	C	12: 51,738,641	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672	S730R	possibly damaging	Het
Csmd1	A	G	8: 16,158,254	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658	T76M	unknown	Het
Ermap	G	A	4: 119,188,710	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167	D29G		Het
Ipo8	T	C	6: 148,789,817	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519	S3P	unknown	Het
Mei4	A	G	9: 81,890,239	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909		probably null	Het
Trav14-2	A	G	14: 53,641,058	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618	W2157*	probably null	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
weakforce	UTSW	3	114113600	missense	unknown
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
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
R7951:Col11a1	UTSW	3	114095215	missense	unknown
R8057:Col11a1	UTSW	3	114131614	missense	unknown
R8134:Col11a1	UTSW	3	114218786	missense	unknown
R8139:Col11a1	UTSW	3	114097049	missense	unknown
R8243:Col11a1	UTSW	3	114061492	missense	unknown
R8324:Col11a1	UTSW	3	114164410	missense	probably damaging	1.00
R8346:Col11a1	UTSW	3	114212169	missense	unknown
R8480:Col11a1	UTSW	3	114181394	missense	probably benign	0.04
R9113:Col11a1	UTSW	3	114094543	nonsense	probably null
R9122:Col11a1	UTSW	3	114113600	missense	unknown
R9137:Col11a1	UTSW	3	114061523	missense	unknown
R9224:Col11a1	UTSW	3	114208280	missense	unknown
R9264:Col11a1	UTSW	3	114212160	missense	unknown
R9272:Col11a1	UTSW	3	114108299	nonsense	probably null
R9382:Col11a1	UTSW	3	114105397	missense	unknown
R9492:Col11a1	UTSW	3	114212103	missense	probably benign	0.39
RF002:Col11a1	UTSW	3	114217001	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'- GATCTTCAGCTTACATAGTTGGTG -3'
(R):5'- GTTTTCCCAGGAGGTCCTTC -3'

Sequencing Primer
(F):5'- TCAGCTTACATAGTTGGTGATTTATC -3'
(R):5'- AGGAGGTCCTTCAGCACCAG -3'

Posted On

2019-10-07