Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Col22a1'

345929

Institutional Source

Beutler Lab

Gene Symbol

Col22a1

Ensembl Gene

ENSMUSG00000079022

Gene Name

collagen, type XXII, alpha 1

Synonyms

C80743, 2310067L16Rik

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71667644-71906076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71824188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 569 (P569T)

Ref Sequence

ENSEMBL: ENSMUSP00000125069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159410] [ENSMUST00000159993] [ENSMUST00000229585]

AlphaFold

E9Q7P1

Predicted Effect

probably benign
Transcript: ENSMUST00000159410
AA Change: P14T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124182
Gene: ENSMUSG00000079022
AA Change: P14T

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	57	2.6e-11	PFAM
Pfam:Collagen	42	104	6.1e-12	PFAM
Pfam:Collagen	103	163	9.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159993
AA Change: P569T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: P569T

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

noncoding transcript
Transcript: ENSMUST00000162081

Predicted Effect

unknown
Transcript: ENSMUST00000229585
AA Change: P14T

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,547,007 (GRCm39)	W356R	probably damaging	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,168,137 (GRCm39)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prkag2	T	A	5: 25,083,732 (GRCm39)	I84F	probably damaging	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,462,887 (GRCm39)	V337A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Timm50	A	G	7: 28,010,443 (GRCm39)	V37A	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	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
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
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'- AGGATGACCCCTCAAGTCTC -3'
(R):5'- TGTCACCACTCAGCAATTCATC -3'

Sequencing Primer
(F):5'- CAACTGTATGCCCCACTATTGTAAGG -3'
(R):5'- ACTCAGCAATTCATCTCTGGTAG -3'

Posted On

2015-09-25