Mutagenetix > Incidental Mutation

Incidental Mutation 'R7378:Col3a1'

610699

Institutional Source

Beutler Lab

Gene Symbol

Col3a1

Ensembl Gene

ENSMUSG00000026043

Gene Name

collagen, type III, alpha 1

Synonyms

Tsk-2, Tsk2, Col3a-1

MMRRC Submission

045460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R7378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45350698-45388866 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 45366807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000085192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087883]

AlphaFold

P08121

Predicted Effect

probably null
Transcript: ENSMUST00000087883

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWC	33	89	2.73e-20	SMART
low complexity region	100	140	N/A	INTRINSIC
low complexity region	163	227	N/A	INTRINSIC
low complexity region	230	248	N/A	INTRINSIC
internal_repeat_2	249	284	3.45e-13	PROSPERO
internal_repeat_1	250	290	1.9e-17	PROSPERO
Pfam:Collagen	293	366	7.3e-9	PFAM
low complexity region	368	419	N/A	INTRINSIC
internal_repeat_4	423	476	2.52e-11	PROSPERO
internal_repeat_1	427	488	1.9e-17	PROSPERO
internal_repeat_3	427	491	7.39e-12	PROSPERO
internal_repeat_2	456	491	3.45e-13	PROSPERO
Pfam:Collagen	533	592	2.6e-11	PFAM
low complexity region	632	680	N/A	INTRINSIC
low complexity region	683	776	N/A	INTRINSIC
low complexity region	784	815	N/A	INTRINSIC
low complexity region	818	855	N/A	INTRINSIC
low complexity region	865	921	N/A	INTRINSIC
low complexity region	925	950	N/A	INTRINSIC
low complexity region	953	974	N/A	INTRINSIC
internal_repeat_4	975	1028	2.52e-11	PROSPERO
internal_repeat_3	976	1029	7.39e-12	PROSPERO
internal_repeat_5	977	991	3.33e-5	PROSPERO
internal_repeat_5	1019	1033	3.33e-5	PROSPERO
low complexity region	1037	1058	N/A	INTRINSIC
Pfam:Collagen	1076	1135	5.6e-13	PFAM
Pfam:Collagen	1136	1209	4.3e-11	PFAM
COLFI	1229	1464	5.73e-166	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (138/140)

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,523,210 (GRCm39)		probably null	Het
Aars1	A	G	8: 111,768,974 (GRCm39)	Y258C	probably damaging	Het
Acaa2	A	T	18: 74,938,943 (GRCm39)	Y376F	probably benign	Het
Adcy1	C	T	11: 7,119,543 (GRCm39)	S1062F	possibly damaging	Het
Adgrb3	A	T	1: 25,571,000 (GRCm39)	C492*	probably null	Het
Adgrg6	A	G	10: 14,411,636 (GRCm39)	F22S	probably benign	Het
Adh1	A	G	3: 137,994,648 (GRCm39)		probably null	Het
Afm	T	A	5: 90,699,259 (GRCm39)	C568S	probably benign	Het
Ago4	C	T	4: 126,405,257 (GRCm39)	E439K	probably benign	Het
Aifm2	T	G	10: 61,563,496 (GRCm39)	V122G	possibly damaging	Het
Akap6	A	G	12: 53,189,357 (GRCm39)	N2257S	probably benign	Het
Ap3m2	A	G	8: 23,294,026 (GRCm39)	I8T	probably benign	Het
Apc2	C	A	10: 80,147,228 (GRCm39)	L761I	probably damaging	Het
Asap2	A	G	12: 21,162,052 (GRCm39)	D3G	probably benign	Het
Asxl1	T	C	2: 153,243,913 (GRCm39)	C1489R	probably damaging	Het
Atm	T	G	9: 53,364,737 (GRCm39)		probably null	Het
Bmal1	C	A	7: 112,898,415 (GRCm39)	T281K	probably benign	Het
Bpifa6	C	A	2: 153,828,353 (GRCm39)	A153E	probably damaging	Het
Cav2	A	G	6: 17,282,059 (GRCm39)	T106A	probably benign	Het
Cavin4	A	G	4: 48,663,631 (GRCm39)	N4D	probably benign	Het
Cenpc1	T	C	5: 86,194,358 (GRCm39)	N136S	probably benign	Het
Cfap45	T	A	1: 172,365,910 (GRCm39)		probably null	Het
Crocc2	C	T	1: 93,121,809 (GRCm39)	L653F	probably damaging	Het
Cry2	A	G	2: 92,244,009 (GRCm39)	L388P	probably damaging	Het
Cstb	T	C	10: 78,262,822 (GRCm39)	F43S	probably damaging	Het
Ctcfl	A	G	2: 172,954,051 (GRCm39)	Y349H	probably damaging	Het
Ctu2	T	A	8: 123,208,238 (GRCm39)	V485D	probably damaging	Het
Cwc25	A	C	11: 97,638,823 (GRCm39)	L367R	possibly damaging	Het
Dock4	T	A	12: 40,838,243 (GRCm39)	H1061Q	possibly damaging	Het
Dpy19l3	C	A	7: 35,452,067 (GRCm39)	V26L	probably benign	Het
Efcab3	T	C	11: 104,605,528 (GRCm39)	I298T	probably benign	Het
Elmo1	A	T	13: 20,465,105 (GRCm39)	I225F	probably benign	Het
Ep300	T	C	15: 81,534,746 (GRCm39)	S2268P	probably damaging	Het
F2r	C	T	13: 95,754,836 (GRCm39)	C16Y	probably damaging	Het
Fbxo33	C	A	12: 59,251,157 (GRCm39)	E453*	probably null	Het
Flot1	A	T	17: 36,136,405 (GRCm39)	D186V	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fras1	T	C	5: 96,744,644 (GRCm39)	C560R	probably damaging	Het
Get3	A	T	8: 85,746,492 (GRCm39)	F119I	probably benign	Het
Gfi1	A	T	5: 107,871,095 (GRCm39)	S165T	possibly damaging	Het
Gli2	T	C	1: 118,776,222 (GRCm39)	D400G	probably damaging	Het
Gm37240	T	A	3: 84,879,944 (GRCm39)		probably null	Het
Gml	C	T	15: 74,688,970 (GRCm39)	V27I	possibly damaging	Het
Htt	A	T	5: 34,961,143 (GRCm39)	I257F	probably benign	Het
Hycc2	T	C	1: 58,569,193 (GRCm39)	K462R	probably benign	Het
Ier5	C	T	1: 154,974,438 (GRCm39)	V247M	probably damaging	Het
Ift46	C	T	9: 44,689,892 (GRCm39)		probably benign	Het
Il12b	A	G	11: 44,298,721 (GRCm39)	T59A	probably benign	Het
Insr	A	G	8: 3,248,231 (GRCm39)	L438P	probably damaging	Het
Iqgap2	C	T	13: 95,869,398 (GRCm39)		probably null	Het
Irx4	A	T	13: 73,415,672 (GRCm39)	T154S	possibly damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Kcns2	T	A	15: 34,839,849 (GRCm39)	L404*	probably null	Het
Kif2c	T	C	4: 117,019,226 (GRCm39)	E644G	possibly damaging	Het
Klhl22	T	C	16: 17,594,669 (GRCm39)	L266P	probably damaging	Het
Krt71	T	A	15: 101,646,764 (GRCm39)	K315*	probably null	Het
Lca5	T	C	9: 83,277,583 (GRCm39)	N587S	probably benign	Het
Lrp1b	T	A	2: 41,185,681 (GRCm39)	M1459L		Het
Lrrtm2	T	C	18: 35,346,645 (GRCm39)	K219R	probably damaging	Het
Mcmbp	T	C	7: 128,306,241 (GRCm39)	D459G	probably damaging	Het
Megf8	A	G	7: 25,048,367 (GRCm39)	H1680R	probably damaging	Het
Mia3	A	G	1: 183,115,629 (GRCm39)	S301P	probably benign	Het
Mtrr	A	G	13: 68,712,521 (GRCm39)	Y622H	probably damaging	Het
Myo7b	T	A	18: 32,099,292 (GRCm39)	Q1710L	probably damaging	Het
Nab1	T	C	1: 52,520,154 (GRCm39)	N276D	probably damaging	Het
Nalcn	C	T	14: 123,540,302 (GRCm39)	R1127H	probably damaging	Het
Nbas	T	A	12: 13,324,220 (GRCm39)	I110N	probably damaging	Het
Nfe2l3	C	T	6: 51,434,276 (GRCm39)	Q279*	probably null	Het
Nlrp9c	C	T	7: 26,064,440 (GRCm39)	E963K	probably benign	Het
Nsmaf	A	G	4: 6,416,586 (GRCm39)	V569A	probably benign	Het
Or10ak14	T	C	4: 118,611,372 (GRCm39)	Y123C	possibly damaging	Het
Or13c3	C	T	4: 52,856,421 (GRCm39)	V31I	probably benign	Het
Or52a5b	T	A	7: 103,417,137 (GRCm39)	I156F	probably benign	Het
Or52n5	A	T	7: 104,588,638 (GRCm39)	I302F	probably benign	Het
Or5ac17	T	A	16: 59,036,283 (GRCm39)	D231V	probably benign	Het
Or5p4	T	C	7: 107,680,399 (GRCm39)	S133P	not run	Het
Or7e166	A	T	9: 19,624,183 (GRCm39)	D20V	probably damaging	Het
Or7g32	T	A	9: 19,408,398 (GRCm39)	M118K	probably damaging	Het
Or8d1b	T	A	9: 38,887,017 (GRCm39)	V15E	probably benign	Het
Or8k28	T	C	2: 86,286,412 (GRCm39)	T68A	probably benign	Het
Paf1	A	G	7: 28,096,353 (GRCm39)	Y322C	probably damaging	Het
Pcdha2	C	A	18: 37,072,438 (GRCm39)	A23D	possibly damaging	Het
Pcdhb6	G	A	18: 37,468,225 (GRCm39)	C382Y	probably damaging	Het
Pdzd7	C	T	19: 45,034,045 (GRCm39)	G13D	probably damaging	Het
Pik3r2	T	C	8: 71,222,025 (GRCm39)	N586S	probably benign	Het
Pik3r3	T	A	4: 116,128,027 (GRCm39)	D119E	probably benign	Het
Pkd2l1	T	A	19: 44,142,154 (GRCm39)	I535F	probably benign	Het
Ppfia3	T	C	7: 45,010,870 (GRCm39)		probably null	Het
Ppl	T	A	16: 4,930,860 (GRCm39)	Q53L	possibly damaging	Het
Rimbp3	T	G	16: 17,029,068 (GRCm39)	S831A	probably benign	Het
Rnps1	A	G	17: 24,637,504 (GRCm39)	T49A	unknown	Het
Rpl7a	T	A	2: 26,802,019 (GRCm39)		probably null	Het
Rrm2b	T	A	15: 37,931,891 (GRCm39)	E248D	probably benign	Het
Sdhaf4	A	G	1: 24,035,439 (GRCm39)	F70L	probably damaging	Het
Sel1l3	A	T	5: 53,273,751 (GRCm39)	S1038R	probably benign	Het
Selenoo	T	A	15: 88,973,681 (GRCm39)	F124I	probably benign	Het
Setbp1	A	T	18: 78,900,701 (GRCm39)	Y989N	probably damaging	Het
Slc1a7	A	G	4: 107,859,400 (GRCm39)	E163G	possibly damaging	Het
Slc22a2	T	C	17: 12,831,278 (GRCm39)	F356S	probably damaging	Het
Slc24a4	C	T	12: 102,205,435 (GRCm39)	P378L	probably benign	Het
Slc4a1ap	A	G	5: 31,684,871 (GRCm39)	D169G	probably benign	Het
Slc4a7	T	A	14: 14,757,421 (GRCm38)	V422D	probably damaging	Het
Slitrk6	T	C	14: 110,987,295 (GRCm39)	Y804C	probably damaging	Het
Smarcad1	T	A	6: 65,087,360 (GRCm39)	H906Q	probably benign	Het
Smn1	A	G	13: 100,264,373 (GRCm39)	T109A	probably damaging	Het
Sntb2	A	G	8: 107,707,944 (GRCm39)	N236S	probably damaging	Het
Spag9	T	A	11: 94,005,177 (GRCm39)		probably null	Het
Spg11	C	A	2: 121,888,910 (GRCm39)	G2154W	probably damaging	Het
Srsf6	T	C	2: 162,776,489 (GRCm39)	S278P	unknown	Het
Stag3	G	A	5: 138,280,222 (GRCm39)	R29H	probably benign	Het
Stambp	C	T	6: 83,540,888 (GRCm39)	V98I	not run	Het
Styxl2	G	T	1: 165,939,632 (GRCm39)	S58*	probably null	Het
Suco	T	C	1: 161,689,780 (GRCm39)	D89G	possibly damaging	Het
Suox	C	T	10: 128,506,910 (GRCm39)	V373I	probably benign	Het
Sv2b	T	A	7: 74,797,476 (GRCm39)		probably null	Het
Tatdn2	T	C	6: 113,681,662 (GRCm39)	L565P	probably damaging	Het
Tbpl2	T	A	2: 23,984,712 (GRCm39)	E145V	probably benign	Het
Tlr1	T	C	5: 65,082,571 (GRCm39)	I669V	not run	Het
Tmc1	A	T	19: 20,845,753 (GRCm39)	F157I	probably damaging	Het
Tmem26	T	G	10: 68,559,922 (GRCm39)		probably null	Het
Tmem33	A	T	5: 67,443,476 (GRCm39)	I218F	probably benign	Het
Tmem94	T	A	11: 115,685,000 (GRCm39)	D862E	probably damaging	Het
Tnr	T	C	1: 159,712,432 (GRCm39)		probably null	Het
Tnrc6c	T	C	11: 117,632,606 (GRCm39)	S1103P	probably benign	Het
Tomm70a	T	A	16: 56,966,407 (GRCm39)	Y453*	probably null	Het
Trabd	C	A	15: 88,969,493 (GRCm39)	R229S	possibly damaging	Het
Trappc10	T	C	10: 78,029,252 (GRCm39)	D1095G	probably damaging	Het
Trim27	A	G	13: 21,376,631 (GRCm39)	T460A	possibly damaging	Het
Tsen54	T	G	11: 115,712,531 (GRCm39)	D433E	probably benign	Het
Ubap2	A	G	4: 41,235,515 (GRCm39)		probably null	Het
Vat1l	A	T	8: 115,016,132 (GRCm39)	N341Y	possibly damaging	Het
Vmn2r82	C	G	10: 79,232,276 (GRCm39)	Y758*	probably null	Het
Vps16	T	G	2: 130,280,099 (GRCm39)	V108G	probably damaging	Het
Vps53	T	A	11: 75,967,900 (GRCm39)	I585F	possibly damaging	Het
Wrnip1	G	A	13: 33,000,264 (GRCm39)	V424M	probably benign	Het
Yif1a	G	A	19: 5,139,818 (GRCm39)	V88M	possibly damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfhx3	A	G	8: 109,519,880 (GRCm39)	E334G	probably damaging	Het
Zfp277	T	C	12: 40,365,852 (GRCm39)	D539G	possibly damaging	Het
Zfp292	A	T	4: 34,808,384 (GRCm39)	N1558K	probably benign	Het
Zfp3	A	G	11: 70,662,899 (GRCm39)	K286R	probably benign	Het
Zfp366	T	C	13: 99,366,023 (GRCm39)	C395R	probably damaging	Het

Other mutations in Col3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Col3a1	APN	1	45,386,295 (GRCm39)	missense	probably damaging	1.00
IGL00928:Col3a1	APN	1	45,380,018 (GRCm39)	intron	probably benign
IGL00958:Col3a1	APN	1	45,366,755 (GRCm39)	missense	unknown
IGL01353:Col3a1	APN	1	45,372,798 (GRCm39)	unclassified	probably benign
IGL01820:Col3a1	APN	1	45,360,768 (GRCm39)	missense	unknown
IGL01839:Col3a1	APN	1	45,350,990 (GRCm39)	missense	unknown
IGL02517:Col3a1	APN	1	45,364,963 (GRCm39)	critical splice acceptor site	probably null
IGL02879:Col3a1	APN	1	45,380,119 (GRCm39)	intron	probably benign
IGL02960:Col3a1	APN	1	45,367,615 (GRCm39)	missense	unknown
IGL03245:Col3a1	APN	1	45,370,269 (GRCm39)	unclassified	probably benign
IGL03308:Col3a1	APN	1	45,369,777 (GRCm39)	splice site	probably benign
Creation	UTSW	1	45,385,144 (GRCm39)	missense	probably damaging	1.00
Kraken	UTSW	1	45,367,026 (GRCm39)	splice site	probably null
Wealth	UTSW	1	45,379,472 (GRCm39)	splice site	probably benign
IGL03050:Col3a1	UTSW	1	45,368,085 (GRCm39)	splice site	probably null
PIT4520001:Col3a1	UTSW	1	45,374,943 (GRCm39)	critical splice donor site	probably null
R0063:Col3a1	UTSW	1	45,369,701 (GRCm39)	splice site	probably benign
R0122:Col3a1	UTSW	1	45,380,057 (GRCm39)	intron	probably benign
R0131:Col3a1	UTSW	1	45,368,028 (GRCm39)	splice site	probably benign
R0762:Col3a1	UTSW	1	45,360,686 (GRCm39)	missense	unknown
R0765:Col3a1	UTSW	1	45,375,811 (GRCm39)	unclassified	probably benign
R0853:Col3a1	UTSW	1	45,382,484 (GRCm39)	intron	probably benign
R0898:Col3a1	UTSW	1	45,373,153 (GRCm39)	unclassified	probably benign
R1170:Col3a1	UTSW	1	45,386,884 (GRCm39)	missense	probably damaging	1.00
R1170:Col3a1	UTSW	1	45,366,761 (GRCm39)	missense	unknown
R1440:Col3a1	UTSW	1	45,382,472 (GRCm39)	splice site	probably null
R1449:Col3a1	UTSW	1	45,360,771 (GRCm39)	missense	unknown
R1526:Col3a1	UTSW	1	45,360,848 (GRCm39)	missense	unknown
R1572:Col3a1	UTSW	1	45,385,128 (GRCm39)	missense	possibly damaging	0.95
R1585:Col3a1	UTSW	1	45,367,026 (GRCm39)	splice site	probably null
R1616:Col3a1	UTSW	1	45,367,648 (GRCm39)	critical splice donor site	probably null
R1691:Col3a1	UTSW	1	45,387,776 (GRCm39)	unclassified	probably benign
R1876:Col3a1	UTSW	1	45,381,395 (GRCm39)	splice site	probably null
R1937:Col3a1	UTSW	1	45,373,453 (GRCm39)	unclassified	probably benign
R2093:Col3a1	UTSW	1	45,372,150 (GRCm39)	missense	probably damaging	1.00
R2110:Col3a1	UTSW	1	45,369,305 (GRCm39)	missense	unknown
R2119:Col3a1	UTSW	1	45,385,281 (GRCm39)	missense	probably damaging	1.00
R2256:Col3a1	UTSW	1	45,360,792 (GRCm39)	missense	unknown
R2327:Col3a1	UTSW	1	45,377,771 (GRCm39)	unclassified	probably benign
R2518:Col3a1	UTSW	1	45,376,672 (GRCm39)	unclassified	probably benign
R2991:Col3a1	UTSW	1	45,374,939 (GRCm39)	unclassified	probably benign
R3405:Col3a1	UTSW	1	45,377,913 (GRCm39)	unclassified	probably benign
R3784:Col3a1	UTSW	1	45,386,295 (GRCm39)	missense	probably damaging	1.00
R3847:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R3848:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R3849:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R4502:Col3a1	UTSW	1	45,387,837 (GRCm39)	unclassified	probably benign
R4503:Col3a1	UTSW	1	45,387,837 (GRCm39)	unclassified	probably benign
R4764:Col3a1	UTSW	1	45,385,270 (GRCm39)	missense	probably damaging	1.00
R4839:Col3a1	UTSW	1	45,362,963 (GRCm39)	splice site	probably null
R4934:Col3a1	UTSW	1	45,379,112 (GRCm39)	unclassified	probably benign
R5033:Col3a1	UTSW	1	45,385,270 (GRCm39)	missense	probably damaging	1.00
R5123:Col3a1	UTSW	1	45,372,756 (GRCm39)	unclassified	probably benign
R5190:Col3a1	UTSW	1	45,383,967 (GRCm39)	intron	probably benign
R5190:Col3a1	UTSW	1	45,368,244 (GRCm39)	missense	unknown
R5375:Col3a1	UTSW	1	45,387,059 (GRCm39)	splice site	probably null
R5407:Col3a1	UTSW	1	45,385,212 (GRCm39)	missense	probably benign	0.03
R5627:Col3a1	UTSW	1	45,370,720 (GRCm39)	unclassified	probably benign
R5642:Col3a1	UTSW	1	45,370,872 (GRCm39)	unclassified	probably benign
R6014:Col3a1	UTSW	1	45,360,739 (GRCm39)	nonsense	probably null
R6052:Col3a1	UTSW	1	45,384,173 (GRCm39)	unclassified	probably benign
R6263:Col3a1	UTSW	1	45,360,735 (GRCm39)	missense	unknown
R6453:Col3a1	UTSW	1	45,378,538 (GRCm39)	unclassified	probably benign
R6463:Col3a1	UTSW	1	45,381,365 (GRCm39)	intron	probably benign
R6488:Col3a1	UTSW	1	45,370,694 (GRCm39)	unclassified	probably benign
R6525:Col3a1	UTSW	1	45,386,339 (GRCm39)	missense	possibly damaging	0.88
R6637:Col3a1	UTSW	1	45,386,890 (GRCm39)	missense	probably damaging	1.00
R6704:Col3a1	UTSW	1	45,386,892 (GRCm39)	missense	probably damaging	1.00
R6744:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6745:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6747:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6858:Col3a1	UTSW	1	45,385,144 (GRCm39)	missense	probably damaging	1.00
R6903:Col3a1	UTSW	1	45,371,148 (GRCm39)	missense	probably damaging	0.96
R7189:Col3a1	UTSW	1	45,372,817 (GRCm39)	missense	unknown
R7194:Col3a1	UTSW	1	45,370,860 (GRCm39)	missense	unknown
R7199:Col3a1	UTSW	1	45,371,301 (GRCm39)	missense	probably null	0.99
R7204:Col3a1	UTSW	1	45,361,578 (GRCm39)	missense	unknown
R7304:Col3a1	UTSW	1	45,386,971 (GRCm39)	missense	unknown
R7398:Col3a1	UTSW	1	45,366,973 (GRCm39)	missense	unknown
R7742:Col3a1	UTSW	1	45,384,161 (GRCm39)	missense	unknown
R8072:Col3a1	UTSW	1	45,360,734 (GRCm39)	missense	unknown
R8177:Col3a1	UTSW	1	45,374,924 (GRCm39)	missense	unknown
R8183:Col3a1	UTSW	1	45,373,970 (GRCm39)	missense	unknown
R8445:Col3a1	UTSW	1	45,380,340 (GRCm39)	nonsense	probably null
R8490:Col3a1	UTSW	1	45,385,116 (GRCm39)	missense	probably benign	0.01
R8546:Col3a1	UTSW	1	45,380,099 (GRCm39)	intron	probably benign
R8720:Col3a1	UTSW	1	45,386,893 (GRCm39)	missense	unknown
R8733:Col3a1	UTSW	1	45,379,472 (GRCm39)	splice site	probably benign
R8888:Col3a1	UTSW	1	45,379,139 (GRCm39)	missense	unknown
R9227:Col3a1	UTSW	1	45,383,138 (GRCm39)	missense	unknown
R9230:Col3a1	UTSW	1	45,383,138 (GRCm39)	missense	unknown
R9302:Col3a1	UTSW	1	45,350,980 (GRCm39)	nonsense	probably null
R9366:Col3a1	UTSW	1	45,380,391 (GRCm39)	missense	unknown
R9653:Col3a1	UTSW	1	45,360,728 (GRCm39)	missense	unknown
R9677:Col3a1	UTSW	1	45,369,727 (GRCm39)	missense	unknown
Z1177:Col3a1	UTSW	1	45,350,960 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAACTGGTGTCACATTGAGC -3'
(R):5'- TGGGCCTTTGATACCCTAAAAG -3'

Sequencing Primer
(F):5'- CACTTGTAATCTGAGCACTCTAGAGG -3'
(R):5'- GGGCCTTTGATACCCTAAAAGTAATG -3'

Posted On

2019-12-26