Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Frem3'

361659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frem3

Ensembl Gene

ENSMUSG00000042353

Gene Name

Fras1 related extracellular matrix protein 3

Synonyms

LOC333315

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

81337709-81421985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81341010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1101 (V1101A)

Ref Sequence

ENSEMBL: ENSMUSP00000038015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039695]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039695
AA Change: V1101A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038015
Gene: ENSMUSG00000042353
AA Change: V1101A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Cadherin_3	369	515	9.5e-31	PFAM
Pfam:Cadherin_3	495	596	9.4e-20	PFAM
Pfam:Cadherin_3	637	786	4.2e-20	PFAM
Pfam:Cadherin_3	788	913	5.5e-23	PFAM
Pfam:Cadherin_3	998	1163	1.8e-20	PFAM
Pfam:Cadherin_3	1129	1254	1.3e-19	PFAM
Pfam:Cadherin_3	1250	1395	9.5e-34	PFAM
Pfam:Cadherin_3	1397	1508	2.7e-21	PFAM
Pfam:Cadherin_3	1493	1617	1.2e-27	PFAM
Pfam:Cadherin_3	1622	1748	4.8e-17	PFAM
Calx_beta	1754	1853	1.45e-7	SMART
Calx_beta	1866	1977	3.35e-12	SMART
Calx_beta	1991	2098	1.61e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Frem3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Frem3	APN	8	81,395,439 (GRCm39)	missense	possibly damaging	0.75
IGL01019:Frem3	APN	8	81,341,763 (GRCm39)	missense	probably benign	0.02
IGL01470:Frem3	APN	8	81,340,944 (GRCm39)	missense	probably damaging	1.00
IGL01609:Frem3	APN	8	81,339,333 (GRCm39)	missense	probably benign	0.00
IGL01622:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01623:Frem3	APN	8	81,340,544 (GRCm39)	missense	probably benign	0.01
IGL01751:Frem3	APN	8	81,342,372 (GRCm39)	missense	probably benign	0.33
IGL02037:Frem3	APN	8	81,338,118 (GRCm39)	missense	probably benign	0.31
IGL02039:Frem3	APN	8	81,339,600 (GRCm39)	missense	probably damaging	1.00
IGL02084:Frem3	APN	8	81,339,072 (GRCm39)	missense	possibly damaging	0.95
IGL02124:Frem3	APN	8	81,339,723 (GRCm39)	missense	probably damaging	0.99
IGL02140:Frem3	APN	8	81,340,736 (GRCm39)	missense	possibly damaging	0.84
IGL03090:Frem3	APN	8	81,344,858 (GRCm39)	missense	probably benign	0.01
IGL03102:Frem3	APN	8	81,339,661 (GRCm39)	missense	possibly damaging	0.92
IGL03116:Frem3	APN	8	81,339,435 (GRCm39)	missense	possibly damaging	0.84
IGL03165:Frem3	APN	8	81,339,158 (GRCm39)	missense	probably benign	0.26
IGL03224:Frem3	APN	8	81,340,092 (GRCm39)	missense	probably damaging	1.00
IGL03401:Frem3	APN	8	81,341,170 (GRCm39)	missense	probably damaging	1.00
IGL03403:Frem3	APN	8	81,337,719 (GRCm39)	missense	probably benign	0.04
FR4340:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
FR4976:Frem3	UTSW	8	81,341,870 (GRCm39)	small insertion	probably benign
IGL02991:Frem3	UTSW	8	81,395,511 (GRCm39)	missense	probably damaging	1.00
IGL03052:Frem3	UTSW	8	81,341,159 (GRCm39)	missense	probably damaging	1.00
R0089:Frem3	UTSW	8	81,342,507 (GRCm39)	missense	possibly damaging	0.94
R0647:Frem3	UTSW	8	81,341,814 (GRCm39)	missense	probably damaging	1.00
R0690:Frem3	UTSW	8	81,340,581 (GRCm39)	missense	possibly damaging	0.84
R0766:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R0834:Frem3	UTSW	8	81,413,637 (GRCm39)	missense	probably damaging	1.00
R0909:Frem3	UTSW	8	81,390,035 (GRCm39)	missense	probably benign	0.45
R1033:Frem3	UTSW	8	81,421,786 (GRCm39)	missense	probably benign	0.00
R1144:Frem3	UTSW	8	81,338,513 (GRCm39)	missense	probably benign	0.01
R1312:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R1330:Frem3	UTSW	8	81,395,468 (GRCm39)	missense	probably damaging	0.99
R1355:Frem3	UTSW	8	81,417,331 (GRCm39)	missense	probably damaging	1.00
R1390:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R1413:Frem3	UTSW	8	81,395,430 (GRCm39)	missense	probably benign
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1470:Frem3	UTSW	8	81,337,820 (GRCm39)	missense	probably benign	0.05
R1503:Frem3	UTSW	8	81,413,647 (GRCm39)	missense	probably damaging	0.99
R1538:Frem3	UTSW	8	81,339,764 (GRCm39)	missense	probably benign	0.00
R1538:Frem3	UTSW	8	81,339,339 (GRCm39)	missense	probably damaging	1.00
R1612:Frem3	UTSW	8	81,341,490 (GRCm39)	missense	probably damaging	1.00
R1793:Frem3	UTSW	8	81,339,741 (GRCm39)	missense	probably benign	0.03
R1872:Frem3	UTSW	8	81,339,205 (GRCm39)	missense	probably damaging	1.00
R1879:Frem3	UTSW	8	81,338,567 (GRCm39)	nonsense	probably null
R1886:Frem3	UTSW	8	81,340,514 (GRCm39)	missense	probably benign	0.00
R1933:Frem3	UTSW	8	81,339,519 (GRCm39)	missense	probably benign	0.00
R2027:Frem3	UTSW	8	81,421,966 (GRCm39)	missense	possibly damaging	0.75
R2040:Frem3	UTSW	8	81,342,455 (GRCm39)	missense	possibly damaging	0.92
R2050:Frem3	UTSW	8	81,341,520 (GRCm39)	missense	probably damaging	1.00
R2079:Frem3	UTSW	8	81,341,732 (GRCm39)	missense	probably benign	0.03
R2099:Frem3	UTSW	8	81,342,488 (GRCm39)	missense	probably benign	0.06
R2120:Frem3	UTSW	8	81,342,086 (GRCm39)	missense	probably benign	0.20
R2842:Frem3	UTSW	8	81,395,978 (GRCm39)	splice site	probably null
R2845:Frem3	UTSW	8	81,339,849 (GRCm39)	missense	probably damaging	1.00
R3015:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.99
R3442:Frem3	UTSW	8	81,339,669 (GRCm39)	missense	probably damaging	1.00
R3724:Frem3	UTSW	8	81,341,900 (GRCm39)	missense	probably benign	0.06
R3730:Frem3	UTSW	8	81,342,545 (GRCm39)	missense	probably damaging	0.99
R3939:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3940:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R3941:Frem3	UTSW	8	81,341,649 (GRCm39)	missense	possibly damaging	0.84
R4089:Frem3	UTSW	8	81,341,802 (GRCm39)	missense	probably damaging	1.00
R4282:Frem3	UTSW	8	81,340,770 (GRCm39)	missense	probably benign	0.00
R4437:Frem3	UTSW	8	81,339,236 (GRCm39)	missense	probably benign	0.30
R4480:Frem3	UTSW	8	81,337,986 (GRCm39)	missense	probably benign	0.10
R4575:Frem3	UTSW	8	81,342,704 (GRCm39)	missense	probably benign	0.17
R4583:Frem3	UTSW	8	81,340,143 (GRCm39)	missense	probably benign	0.03
R4620:Frem3	UTSW	8	81,395,586 (GRCm39)	missense	possibly damaging	0.82
R4621:Frem3	UTSW	8	81,395,820 (GRCm39)	splice site	probably null
R4644:Frem3	UTSW	8	81,340,356 (GRCm39)	missense	probably benign	0.33
R4667:Frem3	UTSW	8	81,390,049 (GRCm39)	missense	probably damaging	0.97
R4748:Frem3	UTSW	8	81,338,088 (GRCm39)	missense	probably damaging	1.00
R4823:Frem3	UTSW	8	81,340,587 (GRCm39)	missense	probably benign	0.25
R4836:Frem3	UTSW	8	81,390,026 (GRCm39)	missense	probably damaging	0.99
R4867:Frem3	UTSW	8	81,339,912 (GRCm39)	missense	probably damaging	1.00
R4921:Frem3	UTSW	8	81,339,765 (GRCm39)	missense	possibly damaging	0.83
R5030:Frem3	UTSW	8	81,339,876 (GRCm39)	missense	possibly damaging	0.89
R5035:Frem3	UTSW	8	81,342,543 (GRCm39)	missense	probably damaging	0.97
R5172:Frem3	UTSW	8	81,339,195 (GRCm39)	missense	probably benign	0.44
R5289:Frem3	UTSW	8	81,338,948 (GRCm39)	missense	probably benign	0.00
R5492:Frem3	UTSW	8	81,339,306 (GRCm39)	missense	probably damaging	1.00
R5655:Frem3	UTSW	8	81,339,323 (GRCm39)	missense	probably benign	0.00
R5685:Frem3	UTSW	8	81,421,932 (GRCm39)	missense	probably damaging	1.00
R5723:Frem3	UTSW	8	81,340,026 (GRCm39)	missense	probably benign	0.02
R5743:Frem3	UTSW	8	81,342,407 (GRCm39)	missense	probably damaging	0.98
R5889:Frem3	UTSW	8	81,340,917 (GRCm39)	missense	probably damaging	1.00
R6048:Frem3	UTSW	8	81,340,062 (GRCm39)	missense	probably benign	0.03
R6057:Frem3	UTSW	8	81,342,216 (GRCm39)	missense	probably damaging	0.99
R6137:Frem3	UTSW	8	81,341,676 (GRCm39)	missense	probably benign
R6264:Frem3	UTSW	8	81,341,832 (GRCm39)	missense	probably damaging	1.00
R6339:Frem3	UTSW	8	81,339,644 (GRCm39)	missense	possibly damaging	0.84
R6418:Frem3	UTSW	8	81,337,781 (GRCm39)	missense	probably benign	0.08
R6680:Frem3	UTSW	8	81,395,949 (GRCm39)	missense	probably damaging	1.00
R6773:Frem3	UTSW	8	81,338,444 (GRCm39)	missense	probably damaging	1.00
R6838:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R6928:Frem3	UTSW	8	81,337,911 (GRCm39)	missense	possibly damaging	0.48
R6939:Frem3	UTSW	8	81,341,774 (GRCm39)	missense	probably benign	0.23
R6995:Frem3	UTSW	8	81,339,208 (GRCm39)	missense	probably damaging	0.98
R7112:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7155:Frem3	UTSW	8	81,342,668 (GRCm39)	missense	probably benign	0.01
R7235:Frem3	UTSW	8	81,417,354 (GRCm39)	missense	probably benign	0.00
R7282:Frem3	UTSW	8	81,338,660 (GRCm39)	missense	probably damaging	1.00
R7403:Frem3	UTSW	8	81,342,774 (GRCm39)	missense	probably damaging	1.00
R7422:Frem3	UTSW	8	81,342,392 (GRCm39)	missense	probably benign	0.00
R7485:Frem3	UTSW	8	81,339,965 (GRCm39)	missense	probably damaging	1.00
R7516:Frem3	UTSW	8	81,338,712 (GRCm39)	missense	probably damaging	0.99
R7858:Frem3	UTSW	8	81,338,350 (GRCm39)	nonsense	probably null
R7976:Frem3	UTSW	8	81,338,231 (GRCm39)	nonsense	probably null
R8171:Frem3	UTSW	8	81,341,869 (GRCm39)	missense	probably damaging	1.00
R8185:Frem3	UTSW	8	81,338,933 (GRCm39)	nonsense	probably null
R8306:Frem3	UTSW	8	81,338,840 (GRCm39)	missense	possibly damaging	0.95
R8478:Frem3	UTSW	8	81,338,187 (GRCm39)	missense	probably damaging	1.00
R8518:Frem3	UTSW	8	81,339,224 (GRCm39)	missense	probably damaging	1.00
R8794:Frem3	UTSW	8	81,342,851 (GRCm39)	missense	probably benign	0.02
R8794:Frem3	UTSW	8	81,338,907 (GRCm39)	missense	probably damaging	1.00
R8806:Frem3	UTSW	8	81,390,064 (GRCm39)	missense	probably benign	0.30
R8833:Frem3	UTSW	8	81,339,401 (GRCm39)	missense	probably benign	0.29
R8879:Frem3	UTSW	8	81,339,777 (GRCm39)	missense	probably damaging	0.98
R8897:Frem3	UTSW	8	81,339,419 (GRCm39)	missense	probably damaging	1.00
R8983:Frem3	UTSW	8	81,395,875 (GRCm39)	missense	probably damaging	1.00
R9207:Frem3	UTSW	8	81,340,071 (GRCm39)	missense	possibly damaging	0.73
R9277:Frem3	UTSW	8	81,417,402 (GRCm39)	missense	probably damaging	0.96
R9536:Frem3	UTSW	8	81,342,048 (GRCm39)	missense	probably benign	0.00
R9596:Frem3	UTSW	8	81,341,951 (GRCm39)	missense	probably benign
R9649:Frem3	UTSW	8	81,341,145 (GRCm39)	missense	probably damaging	1.00
R9671:Frem3	UTSW	8	81,339,134 (GRCm39)	missense	probably benign	0.00
R9723:Frem3	UTSW	8	81,341,352 (GRCm39)	missense	probably benign
R9790:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
R9791:Frem3	UTSW	8	81,339,890 (GRCm39)	missense	probably benign	0.01
RF030:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF034:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
RF042:Frem3	UTSW	8	81,341,867 (GRCm39)	small insertion	probably benign
X0024:Frem3	UTSW	8	81,339,710 (GRCm39)	missense	possibly damaging	0.76
X0027:Frem3	UTSW	8	81,339,017 (GRCm39)	nonsense	probably null
Z1088:Frem3	UTSW	8	81,342,055 (GRCm39)	missense	probably benign	0.04
Z1176:Frem3	UTSW	8	81,342,060 (GRCm39)	missense	probably benign	0.03
Z1176:Frem3	UTSW	8	81,338,132 (GRCm39)	missense	probably damaging	0.99
Z1177:Frem3	UTSW	8	81,342,758 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-12-18