Mutagenetix > Incidental Mutation

Incidental Mutation 'R1289:Col22a1'

150744

Institutional Source

Beutler Lab

Gene Symbol

Col22a1

Ensembl Gene

ENSMUSG00000079022

Gene Name

collagen, type XXII, alpha 1

Synonyms

C80743, 2310067L16Rik

MMRRC Submission

039355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1289 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

71667644-71906076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71709226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 655 (K655T)

Ref Sequence

ENSEMBL: ENSMUSP00000155641 (fasta)

Gene Model

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

AlphaFold

E9Q7P1

Predicted Effect

unknown
Transcript: ENSMUST00000159993
AA Change: K1210T

SMART Domains

Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: K1210T

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: K655T

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,756 (GRCm39)	Y367*	probably null	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arap3	T	C	18: 38,115,026 (GRCm39)	R997G	possibly damaging	Het
Brd10	T	C	19: 29,700,852 (GRCm39)	I745M	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Glcci1	G	A	6: 8,593,088 (GRCm39)	V298I	possibly damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Gm9956	T	A	10: 56,621,676 (GRCm39)	S113T	probably damaging	Het
Gpr75	T	C	11: 30,842,706 (GRCm39)	I537T	probably benign	Het
Hars2	T	G	18: 36,916,465 (GRCm39)		probably null	Het
Helq	A	G	5: 100,944,330 (GRCm39)	V260A	probably damaging	Het
Ift172	A	C	5: 31,438,320 (GRCm39)	F46V	probably damaging	Het
Klk1b9	A	T	7: 43,627,848 (GRCm39)	I49L	probably benign	Het
Lrrk2	T	G	15: 91,696,563 (GRCm39)	N2450K	probably benign	Het
Mtor	T	C	4: 148,554,764 (GRCm39)	V867A	probably benign	Het
Nlgn1	G	T	3: 25,488,400 (GRCm39)	T645K	possibly damaging	Het
Nphs1	T	C	7: 30,170,603 (GRCm39)	L931P	probably damaging	Het
Phf19	T	C	2: 34,786,042 (GRCm39)	T476A	probably benign	Het
Rnf169	T	C	7: 99,574,943 (GRCm39)	I551V	probably benign	Het
Ryr3	T	A	2: 112,475,630 (GRCm39)	E4472V	probably damaging	Het
Tek	T	G	4: 94,693,067 (GRCm39)	F209V	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	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
IGL02888:Col22a1	APN	15	71,718,068 (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
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

Predicted Primers

PCR Primer
(F):5'- GGCCAGACCTTGCTCTTACAATCC -3'
(R):5'- AATGCTCCAACTCTTCTACAGCCG -3'

Sequencing Primer
(F):5'- gacagcatctcccttaccac -3'
(R):5'- ACCATGTTCCTTTCCAGTTGACC -3'

Posted On

2014-01-29