Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Col22a1'

190964

Institutional Source

Beutler Lab

Gene Symbol

Col22a1

Ensembl Gene

ENSMUSG00000079022

Gene Name

collagen, type XXII, alpha 1

Synonyms

C80743, 2310067L16Rik

MMRRC Submission

039748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71667644-71906076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71878830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 109 (E109G)

Ref Sequence

ENSEMBL: ENSMUSP00000125069 (fasta)

Gene Model

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

AlphaFold

E9Q7P1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159993
AA Change: E109G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125069
Gene: ENSMUSG00000079022
AA Change: E109G

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,982,406 (GRCm39)	T12M	probably damaging	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atp10a	G	A	7: 58,436,253 (GRCm39)	V348I	probably damaging	Het
Best2	T	C	8: 85,737,852 (GRCm39)	Y181C	probably benign	Het
Btaf1	T	A	19: 36,946,521 (GRCm39)	D442E	probably damaging	Het
Carmil3	T	G	14: 55,741,989 (GRCm39)	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,876,003 (GRCm39)	I993M	probably damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cip2a	C	T	16: 48,826,082 (GRCm39)	T383I	probably benign	Het
Cmtr2	T	C	8: 110,949,430 (GRCm39)	L580P	probably damaging	Het
Cplane1	T	A	15: 8,256,384 (GRCm39)		probably null	Het
Crispld2	G	T	8: 120,750,388 (GRCm39)	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,393,239 (GRCm39)	H276R	probably benign	Het
Dag1	A	T	9: 108,085,914 (GRCm39)	V409E	possibly damaging	Het
Efcab15	T	C	11: 103,090,650 (GRCm39)		probably null	Het
Emc8	T	C	8: 121,385,294 (GRCm39)	N146S	probably benign	Het
Glt8d1	T	C	14: 30,733,478 (GRCm39)	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,492,776 (GRCm39)		noncoding transcript	Het
Hdac10	G	T	15: 89,010,912 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,482,881 (GRCm39)	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,738,473 (GRCm39)	S93L	probably damaging	Het
Il16	T	C	7: 83,297,936 (GRCm39)	N431S	probably benign	Het
Irf8	A	T	8: 121,481,127 (GRCm39)	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,075,993 (GRCm39)	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,524,073 (GRCm39)	N761D	probably damaging	Het
Mbtps1	T	C	8: 120,269,469 (GRCm39)	Y207C	probably benign	Het
Myo9a	A	G	9: 59,739,583 (GRCm39)	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,434,177 (GRCm39)	D80G	probably damaging	Het
Or12k8	G	A	2: 36,975,188 (GRCm39)	P191S	probably damaging	Het
Or2ag15	G	C	7: 106,340,755 (GRCm39)	P129A	probably damaging	Het
Or7g18	A	T	9: 18,787,090 (GRCm39)	I156F	probably benign	Het
Pcyt2	T	A	11: 120,506,677 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,945,642 (GRCm39)	T944A	probably benign	Het
Prss3b	A	G	6: 41,009,870 (GRCm39)		probably null	Het
Psd4	A	T	2: 24,295,344 (GRCm39)	I833F	probably damaging	Het
Psmd7	A	G	8: 108,307,817 (GRCm39)	I222T	probably benign	Het
Rap2b	A	G	3: 61,272,611 (GRCm39)	E45G	probably damaging	Het
Rbm22	T	C	18: 60,693,916 (GRCm39)	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfx4	A	G	10: 84,680,144 (GRCm39)	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192 (GRCm39)		probably null	Het
Rpgrip1	T	A	14: 52,378,148 (GRCm39)	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,414,870 (GRCm39)	S515P	probably damaging	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sis	T	C	3: 72,796,343 (GRCm39)	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 24,040,724 (GRCm39)	T317S	probably benign	Het
Slc35e1	T	C	8: 73,237,821 (GRCm39)	N340S	probably benign	Het
Smg6	A	G	11: 74,820,256 (GRCm39)	I176V	probably benign	Het
Smim17	T	C	7: 6,432,325 (GRCm39)	L89S	probably damaging	Het
Synm	T	C	7: 67,386,051 (GRCm39)	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,002,873 (GRCm39)	K841E	possibly damaging	Het
Tep1	G	T	14: 51,092,024 (GRCm39)	F570L	possibly damaging	Het
Tgm3	G	A	2: 129,868,734 (GRCm39)		probably null	Het
Tra2b	T	C	16: 22,071,496 (GRCm39)	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,576,110 (GRCm39)	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,274,088 (GRCm39)	D344V	probably damaging	Het
Zfp940	A	G	7: 29,544,363 (GRCm39)	C515R	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
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
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'- TTTCACAAAGCCGACGCCTCAG -3'
(R):5'- TCTTCTAGTGTGGGCAAGGAGGAC -3'

Sequencing Primer
(F):5'- GCCACGGATCTTGTCAATG -3'
(R):5'- CTTTGAGAAAGTCCGCCAGTG -3'

Posted On

2014-05-14