Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02888:Col22a1'

363074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col22a1

Ensembl Gene

ENSMUSG00000079022

Gene Name

collagen, type XXII, alpha 1

Synonyms

C80743, 2310067L16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02888

Quality Score

Status

Chromosome

Chromosomal Location

71667644-71906076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71718068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 619 (H619R)

Ref Sequence

ENSEMBL: ENSMUSP00000155641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159993] [ENSMUST00000229585]

AlphaFold

E9Q7P1

Predicted Effect

unknown
Transcript: ENSMUST00000159993
AA Change: H1174R

SMART Domains

Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: H1174R

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
VWA	45	227	1.35e-51	SMART
TSPN	248	436	1.26e-33	SMART
low complexity region	454	470	N/A	INTRINSIC
internal_repeat_3	494	555	1.96e-13	PROSPERO
internal_repeat_1	496	643	1.49e-19	PROSPERO
low complexity region	644	657	N/A	INTRINSIC
low complexity region	673	707	N/A	INTRINSIC
Pfam:Collagen	751	823	1.5e-9	PFAM
Pfam:Collagen	810	863	2.3e-10	PFAM
Pfam:Collagen	869	931	4.8e-11	PFAM
Pfam:Collagen	926	990	1.1e-10	PFAM
Pfam:Collagen	1031	1087	1.7e-10	PFAM
Pfam:Collagen	1104	1162	1.8e-11	PFAM
low complexity region	1173	1227	N/A	INTRINSIC
low complexity region	1236	1251	N/A	INTRINSIC
internal_repeat_2	1257	1348	3.25e-18	PROSPERO
internal_repeat_4	1268	1347	9.67e-7	PROSPERO
Pfam:Collagen	1389	1448	4e-10	PFAM
Pfam:Collagen	1481	1540	2.6e-9	PFAM
low complexity region	1546	1558	N/A	INTRINSIC
low complexity region	1580	1590	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000229585
AA Change: H619R

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,610 (GRCm39)	H345R	probably damaging	Het
Afap1l1	T	A	18: 61,881,879 (GRCm39)	Y272F	probably damaging	Het
AI661453	C	A	17: 47,778,329 (GRCm39)		probably benign	Het
Ajap1	T	G	4: 153,516,718 (GRCm39)	I208L	probably benign	Het
Aldh3b2	G	A	19: 4,030,083 (GRCm39)	V356M	probably benign	Het
Angptl7	T	A	4: 148,580,788 (GRCm39)		probably benign	Het
Atp2a3	G	A	11: 72,867,954 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,819,559 (GRCm39)	D451G	probably benign	Het
Brpf3	G	A	17: 29,047,365 (GRCm39)	R1043H	probably damaging	Het
Cd177	A	G	7: 24,457,862 (GRCm39)	L132P	probably damaging	Het
Chsy3	A	G	18: 59,543,067 (GRCm39)	D735G	probably benign	Het
Cldn8	A	T	16: 88,359,271 (GRCm39)	I218K	probably benign	Het
Cltc	T	C	11: 86,648,123 (GRCm39)		probably benign	Het
Crxos	G	A	7: 15,636,855 (GRCm39)	E143K	possibly damaging	Het
Dcp1b	A	G	6: 119,197,048 (GRCm39)		probably benign	Het
Ddc	A	G	11: 11,772,297 (GRCm39)		probably benign	Het
Dnajc13	A	T	9: 104,057,261 (GRCm39)		probably benign	Het
Dnajc27	C	T	12: 4,139,186 (GRCm39)	H75Y	possibly damaging	Het
Fgd3	C	T	13: 49,435,292 (GRCm39)		probably null	Het
Gcc2	A	G	10: 58,130,650 (GRCm39)	D1414G	probably damaging	Het
Gtf3c2	G	A	5: 31,331,169 (GRCm39)	P169L	probably damaging	Het
Ighv1-76	T	A	12: 115,811,566 (GRCm39)	S96C	probably damaging	Het
Lmbrd1	T	A	1: 24,754,053 (GRCm39)	I206K	possibly damaging	Het
Lypd5	A	G	7: 24,052,044 (GRCm39)	S120G	probably damaging	Het
Mgat4b	T	A	11: 50,123,159 (GRCm39)	Y249N	probably damaging	Het
Msh4	A	T	3: 153,602,550 (GRCm39)	L32*	probably null	Het
Muc4	A	G	16: 32,575,656 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,177,013 (GRCm39)		probably benign	Het
Nenf	T	C	1: 191,042,118 (GRCm39)	T113A	probably benign	Het
Nup85	A	G	11: 115,469,626 (GRCm39)	D75G	possibly damaging	Het
Nutm1	A	T	2: 112,080,980 (GRCm39)	L438Q	probably damaging	Het
Oas1h	A	T	5: 120,999,610 (GRCm39)	I32F	probably benign	Het
Oasl1	G	A	5: 115,075,241 (GRCm39)	V434M	probably damaging	Het
Or2a5	A	G	6: 42,874,263 (GRCm39)	N293D	probably damaging	Het
Or9s27	T	C	1: 92,516,925 (GRCm39)	L291P	probably damaging	Het
Pde2a	C	A	7: 101,154,276 (GRCm39)	H549Q	probably damaging	Het
Phkb	G	T	8: 86,662,101 (GRCm39)		probably null	Het
Pigm	T	C	1: 172,205,214 (GRCm39)	C317R	probably damaging	Het
Ppl	A	T	16: 4,918,271 (GRCm39)	S470R	possibly damaging	Het
Pramel14	G	A	4: 143,720,669 (GRCm39)	R91W	probably benign	Het
Slc13a4	A	T	6: 35,245,775 (GRCm39)	D623E	probably benign	Het
Stx11	A	G	10: 12,817,359 (GRCm39)	S122P	possibly damaging	Het
Sytl3	A	G	17: 7,000,483 (GRCm39)	T218A	probably benign	Het
Tango6	A	G	8: 107,447,297 (GRCm39)	D565G	probably damaging	Het
Tex14	T	C	11: 87,418,738 (GRCm39)		probably null	Het
Tinag	T	C	9: 76,938,995 (GRCm39)	D161G	probably benign	Het
Vcpip1	T	C	1: 9,795,011 (GRCm39)	D1120G	probably damaging	Het
Zfp446	G	A	7: 12,713,255 (GRCm39)	A98T	probably damaging	Het

Other mutations in Col22a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Col22a1	APN	15	71,732,807 (GRCm39)	critical splice donor site	probably null
IGL00434:Col22a1	APN	15	71,878,524 (GRCm39)	missense	possibly damaging	0.71
IGL00721:Col22a1	APN	15	71,718,026 (GRCm39)	missense	unknown
IGL00902:Col22a1	APN	15	71,836,508 (GRCm39)	missense	probably damaging	1.00
IGL01311:Col22a1	APN	15	71,845,486 (GRCm39)	splice site	probably benign
IGL01329:Col22a1	APN	15	71,778,889 (GRCm39)	missense	probably benign	0.02
IGL01527:Col22a1	APN	15	71,778,880 (GRCm39)	missense	probably damaging	0.98
IGL01870:Col22a1	APN	15	71,824,377 (GRCm39)	missense	probably benign	0.07
IGL02002:Col22a1	APN	15	71,682,946 (GRCm39)	splice site	probably benign
IGL02248:Col22a1	APN	15	71,671,297 (GRCm39)	missense	unknown
IGL02322:Col22a1	APN	15	71,694,502 (GRCm39)	missense	unknown
IGL02472:Col22a1	APN	15	71,699,602 (GRCm39)	splice site	probably benign
IGL02685:Col22a1	APN	15	71,673,764 (GRCm39)	missense	unknown
IGL02971:Col22a1	APN	15	71,878,587 (GRCm39)	missense	probably damaging	1.00
IGL03175:Col22a1	APN	15	71,840,952 (GRCm39)	missense	possibly damaging	0.81
IGL03240:Col22a1	APN	15	71,679,777 (GRCm39)	missense	unknown
R0083:Col22a1	UTSW	15	71,762,346 (GRCm39)	missense	possibly damaging	0.70
R0383:Col22a1	UTSW	15	71,740,853 (GRCm39)	missense	unknown
R0449:Col22a1	UTSW	15	71,834,520 (GRCm39)	critical splice donor site	probably null
R0508:Col22a1	UTSW	15	71,805,262 (GRCm39)	missense	unknown
R0944:Col22a1	UTSW	15	71,753,511 (GRCm39)	missense	probably benign	0.03
R1289:Col22a1	UTSW	15	71,709,226 (GRCm39)	missense	unknown
R1436:Col22a1	UTSW	15	71,794,806 (GRCm39)	splice site	probably benign
R1439:Col22a1	UTSW	15	71,824,226 (GRCm39)	splice site	probably benign
R1460:Col22a1	UTSW	15	71,693,780 (GRCm39)	missense	unknown
R1680:Col22a1	UTSW	15	71,671,210 (GRCm39)	missense	unknown
R1715:Col22a1	UTSW	15	71,878,830 (GRCm39)	missense	possibly damaging	0.79
R1742:Col22a1	UTSW	15	71,673,762 (GRCm39)	missense	unknown
R1745:Col22a1	UTSW	15	71,878,636 (GRCm39)	missense	probably damaging	1.00
R1763:Col22a1	UTSW	15	71,879,025 (GRCm39)	missense	probably damaging	0.96
R1932:Col22a1	UTSW	15	71,741,989 (GRCm39)	missense	unknown
R2125:Col22a1	UTSW	15	71,720,426 (GRCm39)	missense	unknown
R2126:Col22a1	UTSW	15	71,729,102 (GRCm39)	nonsense	probably null
R2137:Col22a1	UTSW	15	71,878,797 (GRCm39)	missense	possibly damaging	0.46
R2860:Col22a1	UTSW	15	71,687,792 (GRCm39)	critical splice donor site	probably null
R2861:Col22a1	UTSW	15	71,687,792 (GRCm39)	critical splice donor site	probably null
R2862:Col22a1	UTSW	15	71,687,792 (GRCm39)	critical splice donor site	probably null
R3704:Col22a1	UTSW	15	71,842,156 (GRCm39)	missense	probably damaging	1.00
R3778:Col22a1	UTSW	15	71,845,541 (GRCm39)	missense	probably damaging	1.00
R3940:Col22a1	UTSW	15	71,853,782 (GRCm39)	nonsense	probably null
R3950:Col22a1	UTSW	15	71,849,207 (GRCm39)	missense	possibly damaging	0.90
R4240:Col22a1	UTSW	15	71,878,980 (GRCm39)	missense	probably damaging	1.00
R4531:Col22a1	UTSW	15	71,878,998 (GRCm39)	missense	probably damaging	1.00
R4597:Col22a1	UTSW	15	71,836,511 (GRCm39)	missense	possibly damaging	0.83
R4604:Col22a1	UTSW	15	71,824,188 (GRCm39)	missense	probably benign	0.36
R4654:Col22a1	UTSW	15	71,845,544 (GRCm39)	missense	possibly damaging	0.95
R4782:Col22a1	UTSW	15	71,673,774 (GRCm39)	missense	unknown
R4847:Col22a1	UTSW	15	71,671,348 (GRCm39)	missense	unknown
R4980:Col22a1	UTSW	15	71,673,792 (GRCm39)	missense	unknown
R4981:Col22a1	UTSW	15	71,732,915 (GRCm39)	missense	unknown
R4996:Col22a1	UTSW	15	71,879,010 (GRCm39)	missense	probably damaging	0.99
R5007:Col22a1	UTSW	15	71,816,271 (GRCm39)	missense	probably damaging	1.00
R5135:Col22a1	UTSW	15	71,671,186 (GRCm39)	missense	unknown
R5197:Col22a1	UTSW	15	71,881,255 (GRCm39)	missense	probably damaging	0.96
R5292:Col22a1	UTSW	15	71,842,185 (GRCm39)	missense	probably damaging	1.00
R5449:Col22a1	UTSW	15	71,693,798 (GRCm39)	missense	unknown
R5480:Col22a1	UTSW	15	71,836,460 (GRCm39)	missense	probably damaging	0.98
R5627:Col22a1	UTSW	15	71,853,767 (GRCm39)	missense	probably damaging	0.98
R5828:Col22a1	UTSW	15	71,881,340 (GRCm39)	missense	probably benign	0.01
R5927:Col22a1	UTSW	15	71,878,815 (GRCm39)	missense	probably damaging	1.00
R6006:Col22a1	UTSW	15	71,845,685 (GRCm39)	missense	probably damaging	1.00
R6245:Col22a1	UTSW	15	71,845,665 (GRCm39)	missense	probably damaging	0.99
R6288:Col22a1	UTSW	15	71,766,718 (GRCm39)	critical splice acceptor site	probably null
R6482:Col22a1	UTSW	15	71,762,338 (GRCm39)	missense	possibly damaging	0.93
R6497:Col22a1	UTSW	15	71,762,425 (GRCm39)	missense	possibly damaging	0.85
R6579:Col22a1	UTSW	15	71,753,502 (GRCm39)	missense	probably benign	0.18
R6643:Col22a1	UTSW	15	71,693,886 (GRCm39)	splice site	probably null
R6663:Col22a1	UTSW	15	71,691,908 (GRCm39)	missense	unknown
R7179:Col22a1	UTSW	15	71,805,262 (GRCm39)	missense	unknown
R7215:Col22a1	UTSW	15	71,842,181 (GRCm39)	nonsense	probably null
R7216:Col22a1	UTSW	15	71,845,694 (GRCm39)	missense	probably damaging	1.00
R7505:Col22a1	UTSW	15	71,671,248 (GRCm39)	nonsense	probably null
R7585:Col22a1	UTSW	15	71,764,054 (GRCm39)	missense	probably damaging	0.99
R7699:Col22a1	UTSW	15	71,845,700 (GRCm39)	missense	probably damaging	1.00
R7788:Col22a1	UTSW	15	71,824,166 (GRCm39)	critical splice donor site	probably null
R7921:Col22a1	UTSW	15	71,853,811 (GRCm39)	splice site	probably null
R8205:Col22a1	UTSW	15	71,732,918 (GRCm39)	missense	unknown
R8769:Col22a1	UTSW	15	71,878,571 (GRCm39)	missense	probably benign	0.21
R8780:Col22a1	UTSW	15	71,878,796 (GRCm39)	missense	probably damaging	0.99
R8827:Col22a1	UTSW	15	71,774,665 (GRCm39)	critical splice donor site	probably null
R8843:Col22a1	UTSW	15	71,878,503 (GRCm39)	missense	probably damaging	1.00
R8982:Col22a1	UTSW	15	71,845,487 (GRCm39)	critical splice donor site	probably null
R9031:Col22a1	UTSW	15	71,753,523 (GRCm39)	nonsense	probably null
R9036:Col22a1	UTSW	15	71,762,431 (GRCm39)	missense	probably damaging	1.00
R9084:Col22a1	UTSW	15	71,691,929 (GRCm39)	missense	unknown
R9281:Col22a1	UTSW	15	71,732,920 (GRCm39)	missense	unknown
R9386:Col22a1	UTSW	15	71,853,794 (GRCm39)	missense	probably damaging	1.00
R9406:Col22a1	UTSW	15	71,845,541 (GRCm39)	missense	probably damaging	1.00
R9577:Col22a1	UTSW	15	71,837,595 (GRCm39)	missense	probably damaging	0.99
R9727:Col22a1	UTSW	15	71,849,123 (GRCm39)	missense	probably damaging	1.00
X0066:Col22a1	UTSW	15	71,718,049 (GRCm39)	missense	unknown
X0066:Col22a1	UTSW	15	71,673,728 (GRCm39)	missense	unknown
Y5406:Col22a1	UTSW	15	71,671,364 (GRCm39)	missense	unknown
Z1177:Col22a1	UTSW	15	71,786,969 (GRCm39)	missense	unknown

Posted On

2015-12-18