Mutagenetix > Incidental Mutation

Incidental Mutation 'R9727:Col22a1'

731118

Institutional Source

Beutler Lab

Gene Symbol

Col22a1

Ensembl Gene

ENSMUSG00000079022

Gene Name

collagen, type XXII, alpha 1

Synonyms

C80743, 2310067L16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9727 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71667644-71906076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71849123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 322 (W322R)

Ref Sequence

ENSEMBL: ENSMUSP00000125069 (fasta)

Gene Model

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

AlphaFold

E9Q7P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000159993
AA Change: W322R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: W322R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin2	A	G	4: 34,565,248 (GRCm39)	Y165C	probably damaging	Het
Aox4	A	G	1: 58,286,473 (GRCm39)	I702V	probably benign	Het
Arhgef33	A	G	17: 80,678,720 (GRCm39)	Y472C	probably damaging	Het
Atp13a4	T	G	16: 29,228,589 (GRCm39)	S964R		Het
Atp1a2	T	A	1: 172,118,936 (GRCm39)	I69F	probably benign	Het
Bub1	T	C	2: 127,652,609 (GRCm39)	D586G	possibly damaging	Het
Ccdc177	C	A	12: 80,806,044 (GRCm39)	A77S	probably benign	Het
Ccdc187	A	G	2: 26,171,204 (GRCm39)	W425R	probably damaging	Het
Ccn2	A	G	10: 24,471,820 (GRCm39)	E37G	probably benign	Het
Ccsap	T	C	8: 124,572,169 (GRCm39)	D111G	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Ceacam3	C	A	7: 16,892,262 (GRCm39)	T335K		Het
Col5a2	A	G	1: 45,415,818 (GRCm39)	V1443A	possibly damaging	Het
Dnah12	C	T	14: 26,523,510 (GRCm39)	Q2000*	probably null	Het
Dock7	G	T	4: 98,875,568 (GRCm39)	T1154K	unknown	Het
Dot1l	T	C	10: 80,628,382 (GRCm39)	L1140P	unknown	Het
Dst	G	A	1: 34,314,877 (GRCm39)	V4489M	probably damaging	Het
Duox2	G	A	2: 122,116,998 (GRCm39)	R960*	probably null	Het
Elavl2	T	C	4: 91,169,495 (GRCm39)	I97V	probably benign	Het
Emp1	G	T	6: 135,358,016 (GRCm39)	A121S	probably benign	Het
Exph5	A	T	9: 53,287,702 (GRCm39)	R1594S	probably damaging	Het
Fam186b	C	T	15: 99,171,669 (GRCm39)	M859I	probably benign	Het
Fat2	A	G	11: 55,159,137 (GRCm39)	V3345A	probably damaging	Het
Gtf2f1	A	T	17: 57,318,005 (GRCm39)	N10K	possibly damaging	Het
Hid1	T	G	11: 115,245,939 (GRCm39)	K384N	probably damaging	Het
Hmcn1	T	C	1: 150,674,566 (GRCm39)	R579G	probably benign	Het
Igf1r	T	A	7: 67,857,554 (GRCm39)	V1078D	probably damaging	Het
Il20rb	A	T	9: 100,357,001 (GRCm39)	M43K	probably damaging	Het
Kdm3a	A	T	6: 71,569,094 (GRCm39)	Y1134*	probably null	Het
Kif12	T	A	4: 63,085,978 (GRCm39)	N429I	probably damaging	Het
Kif18a	C	T	2: 109,118,464 (GRCm39)	T93I	probably damaging	Het
Krtap9-5	T	A	11: 99,839,340 (GRCm39)	C14S	possibly damaging	Het
Lgals8	A	T	13: 12,462,038 (GRCm39)	M264K	possibly damaging	Het
Mlxipl	T	A	5: 135,150,388 (GRCm39)	C143*	probably null	Het
Mtcl2	T	A	2: 156,862,168 (GRCm39)	Q1587L	possibly damaging	Het
Mvp	A	T	7: 126,595,040 (GRCm39)	H268Q	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nos2	A	G	11: 78,843,825 (GRCm39)	Y924C	possibly damaging	Het
Or4f52	A	T	2: 111,061,961 (GRCm39)	M59K	probably damaging	Het
Phf20l1	A	G	15: 66,487,231 (GRCm39)	N449S	probably benign	Het
Pot1b	A	C	17: 55,999,795 (GRCm39)	I210S	possibly damaging	Het
Ptrh1	T	A	2: 32,665,854 (GRCm39)	W5R	probably benign	Het
Rasgrp3	A	G	17: 75,810,239 (GRCm39)	H313R	probably damaging	Het
Ric1	A	T	19: 29,575,258 (GRCm39)	I984F	probably damaging	Het
Rin2	G	A	2: 145,702,506 (GRCm39)	A401T	possibly damaging	Het
Rmdn3	C	A	2: 118,968,827 (GRCm39)		probably null	Het
Senp7	A	T	16: 55,990,169 (GRCm39)	H639L	probably benign	Het
Sipa1l1	T	C	12: 82,471,829 (GRCm39)	S1270P	probably damaging	Het
Slc22a28	T	A	19: 8,108,818 (GRCm39)	E108V	probably benign	Het
Slc7a5	A	G	8: 122,613,085 (GRCm39)	I331T	probably benign	Het
Smarca4	T	C	9: 21,611,160 (GRCm39)	Y1467H	probably damaging	Het
Srebf2	T	A	15: 82,076,506 (GRCm39)	F759I	possibly damaging	Het
Thumpd2	A	T	17: 81,345,585 (GRCm39)	D304E	probably damaging	Het
Tmem59	A	G	4: 107,050,547 (GRCm39)	E226G	probably benign	Het
Trpv1	A	C	11: 73,130,347 (GRCm39)	D151A	probably damaging	Het
Txnrd3	A	G	6: 89,651,751 (GRCm39)	D607G	probably benign	Het
Ubr4	T	A	4: 139,140,735 (GRCm39)	V1218E	probably damaging	Het
Ugt2b5	T	A	5: 87,288,165 (GRCm39)	M1L	probably damaging	Het
Vwa5b2	C	T	16: 20,423,477 (GRCm39)	A1130V	probably damaging	Het
Wdr4	T	C	17: 31,718,045 (GRCm39)	E343G	probably benign	Het
Zbtb34	C	A	2: 33,301,533 (GRCm39)	R336L	probably benign	Het
Zfp607b	T	C	7: 27,403,125 (GRCm39)	V527A	probably benign	Het
Zfp949	T	A	9: 88,451,913 (GRCm39)	C494*	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
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
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'- TATGGGTTCCTTAGGGCTCC -3'
(R):5'- GAGAGTGTTGCAGGCATCCATAG -3'

Sequencing Primer
(F):5'- TTAGGGCTCCTCACACTGG -3'
(R):5'- ATCCATAGGGGTTACACTGCCAG -3'

Posted On

2022-10-06