Mutagenetix > Incidental Mutations

Incidental Mutation 'R1672:Frem1'

187679

Institutional Source

Beutler Lab

Gene Symbol

Frem1

Ensembl Gene

ENSMUSG00000059049

Gene Name

Fras1 related extracellular matrix protein 1

Synonyms

eyes2, heb, eye, crf11, QBRICK

MMRRC Submission

039708-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.750) question?

Stock #

R1672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82897920-83052339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82998891 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 605 (R605H)

Ref Sequence

ENSEMBL: ENSMUSP00000102849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]

Predicted Effect

probably benign
Transcript: ENSMUST00000071708
AA Change: R605H

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: R605H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107230
AA Change: R605H

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: R605H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131102

Predicted Effect

probably benign
Transcript: ENSMUST00000170248
AA Change: R606H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: R606H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,627,208	Q132*	probably null	Het
4930430A15Rik	T	A	2: 111,220,774	M226L	probably benign	Het
Aadacl4	T	A	4: 144,623,319	L382*	probably null	Het
Afg3l2	A	G	18: 67,407,423	I672T	probably benign	Het
Aftph	A	T	11: 20,726,762	D282E	probably benign	Het
Agpat5	A	G	8: 18,870,914	N161S	probably benign	Het
Alpk2	C	T	18: 65,280,959	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Apobr	A	G	7: 126,587,551	R745G	probably benign	Het
Arrdc5	T	C	17: 56,300,144	T34A	possibly damaging	Het
Astl	T	C	2: 127,347,243	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,209,141	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,332,274	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Brinp1	T	C	4: 68,829,283		probably null	Het
Capn9	A	G	8: 124,613,831	N578S	probably benign	Het
Casp2	T	A	6: 42,268,908	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,977,507	I301N	probably damaging	Het
Chtop	T	A	3: 90,507,567	T15S	probably damaging	Het
Coq5	T	A	5: 115,279,916		probably null	Het
Crbn	G	A	6: 106,795,925	P34L	probably damaging	Het
Crisp1	G	T	17: 40,308,869	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 32,909,236	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,613,277	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,217,911	S531P	probably benign	Het
Defb25	T	C	2: 152,622,490	M45V	probably benign	Het
Dffa	T	C	4: 149,106,245	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,689,864	Q361R	probably damaging	Het
Dnah1	A	G	14: 31,276,200	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,015,541	T108A	probably benign	Het
Fam149a	T	G	8: 45,339,374		probably null	Het
Fam20c	A	G	5: 138,807,301	Y430C	probably damaging	Het
Fat1	A	G	8: 45,036,835	T3595A	probably damaging	Het
Fbp1	A	G	13: 62,867,431	Y245H	probably damaging	Het
Fscb	A	G	12: 64,471,518	I1058T	unknown	Het
Fyb2	A	G	4: 104,950,862	K373R	probably benign	Het
Ggta1	A	T	2: 35,402,133	Y387*	probably null	Het
Gm18856	T	C	13: 13,965,757		probably benign	Het
Gm572	T	C	4: 148,668,509	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,357,700	I552F	probably damaging	Het
Grk5	T	C	19: 61,086,215		probably null	Het
Hivep1	T	C	13: 42,160,284	V2000A	probably damaging	Het
Ipo5	C	T	14: 120,933,302	L466F	probably damaging	Het
Itgb1	G	A	8: 128,732,045	S785N	probably damaging	Het
Itpr3	G	A	17: 27,089,013	R258K	probably benign	Het
Kcnk12	A	G	17: 87,746,319	V305A	probably benign	Het
Klf5	C	T	14: 99,301,550	T133I	probably damaging	Het
Lrig2	A	G	3: 104,491,812	I178T	probably damaging	Het
Lyrm4	A	T	13: 36,092,924	M30K	probably benign	Het
Mpv17	A	G	5: 31,153,719	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,596,816		probably null	Het
Myof	A	T	19: 37,943,479	W967R	probably damaging	Het
Naip1	C	T	13: 100,423,149	D1116N	probably benign	Het
Olfr150	G	A	9: 39,737,196	C127Y	probably damaging	Het
Olfr393	T	C	11: 73,847,955	T57A	probably benign	Het
Olfr792	C	A	10: 129,540,692	H52N	probably benign	Het
Olfr826	T	C	10: 130,180,392	T163A	probably benign	Het
Ovol2	T	C	2: 144,305,790	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,152,309	S418G	probably benign	Het
Pcdh1	T	C	18: 38,192,180	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,474,660	Y315F	probably damaging	Het
Pex1	T	C	5: 3,626,085	L891P	probably damaging	Het
Ppfia2	G	A	10: 106,830,568	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491		probably null	Het
Prm3	T	C	16: 10,790,699	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,250,571	D134G	possibly damaging	Het
Prss42	G	A	9: 110,800,928	G250D	probably damaging	Het
Pwwp2b	G	A	7: 139,254,831	V63I	probably benign	Het
Rbm17	T	C	2: 11,585,719	D375G	possibly damaging	Het
Rhbdl1	A	T	17: 25,836,409		probably null	Het
Rims2	T	A	15: 39,292,189	D128E	probably benign	Het
Rock2	A	G	12: 16,965,652	K850R	probably benign	Het
Rreb1	T	C	13: 37,930,537	I624T	probably benign	Het
Rrp36	A	T	17: 46,672,414	D91E	probably damaging	Het
Scn7a	C	T	2: 66,697,600	D849N	possibly damaging	Het
Sec24a	A	T	11: 51,743,948	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,892,964	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,499,277	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,535,775	I355F	probably damaging	Het
Spata2	C	T	2: 167,483,519	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,528,985	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395	Y146C	probably damaging	Het
Susd5	A	T	9: 114,068,822	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,868,066	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,475,215	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,824,759	E640G	probably damaging	Het
Togaram1	A	G	12: 65,021,568	T1782A	probably benign	Het
Trim24	T	C	6: 37,915,279	L249P	probably damaging	Het
Ttf1	T	C	2: 29,067,152	I478T	probably damaging	Het
Upf2	T	A	2: 6,040,097		probably null	Het
Urb1	A	T	16: 90,787,397	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,179,092	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,268,278	V245E	probably damaging	Het
Vwce	T	A	19: 10,653,095	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,511,276	F155L	probably damaging	Het
Xrra1	A	T	7: 99,898,440	I279F	probably benign	Het
Zfp229	T	C	17: 21,745,847	S353P	probably damaging	Het
Zfp607b	C	T	7: 27,692,523	H8Y	possibly damaging	Het
Zfp933	A	T	4: 147,826,019	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,225,148	L546P	probably benign	Het
Zfp988	C	T	4: 147,331,282	R58C	probably benign	Het
Zkscan14	C	T	5: 145,201,654	V8I	probably benign	Het

Other mutations in Frem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Frem1	APN	4	82959389	missense	possibly damaging	0.46
IGL01069:Frem1	APN	4	83013867	missense	probably benign	0.00
IGL01106:Frem1	APN	4	82922257	missense	probably benign	0.00
IGL01398:Frem1	APN	4	82950362	missense	possibly damaging	0.64
IGL01617:Frem1	APN	4	82936139	missense	probably benign	0.02
IGL01647:Frem1	APN	4	82950356	missense	possibly damaging	0.60
IGL01690:Frem1	APN	4	82959296	splice site	probably benign
IGL02006:Frem1	APN	4	82992800	critical splice donor site	probably null
IGL02069:Frem1	APN	4	82903551	missense	probably damaging	1.00
IGL02131:Frem1	APN	4	82924854	missense	probably benign	0.03
IGL02225:Frem1	APN	4	82940506	missense	probably damaging	1.00
IGL02439:Frem1	APN	4	82956345	missense	probably benign	0.00
IGL02567:Frem1	APN	4	83000055	missense	probably damaging	1.00
IGL02647:Frem1	APN	4	83001754	missense	probably damaging	1.00
IGL02653:Frem1	APN	4	82959334	missense	probably benign	0.22
IGL02831:Frem1	APN	4	82956158	missense	probably benign	0.31
IGL02997:Frem1	APN	4	82934968	missense	probably damaging	1.00
IGL03005:Frem1	APN	4	82994134	missense	probably damaging	1.00
IGL03036:Frem1	APN	4	82959339	missense	possibly damaging	0.55
IGL03193:Frem1	APN	4	82994026	splice site	probably benign
IGL03218:Frem1	APN	4	82914646	missense	probably benign	0.00
IGL03235:Frem1	APN	4	83020755	missense	possibly damaging	0.87
IGL03243:Frem1	APN	4	83013969	missense	probably damaging	1.00
bat	UTSW	4	82983060	intron	probably benign
PIT4131001:Frem1	UTSW	4	83005808	missense	probably damaging	0.99
PIT4466001:Frem1	UTSW	4	82972137	missense	probably benign	0.01
PIT4472001:Frem1	UTSW	4	82972137	missense	probably benign	0.01
PIT4515001:Frem1	UTSW	4	82900426	missense	probably damaging	0.98
PIT4531001:Frem1	UTSW	4	82950280	missense	probably benign	0.12
R0010:Frem1	UTSW	4	83000098	missense	probably benign	0.41
R0010:Frem1	UTSW	4	83000098	missense	probably benign	0.41
R0115:Frem1	UTSW	4	82936169	missense	possibly damaging	0.94
R0125:Frem1	UTSW	4	83011951	missense	probably damaging	1.00
R0280:Frem1	UTSW	4	82969444	missense	probably damaging	1.00
R0504:Frem1	UTSW	4	82912637	missense	probably benign	0.26
R0519:Frem1	UTSW	4	82970633	critical splice donor site	probably null
R0631:Frem1	UTSW	4	82972165	missense	probably damaging	1.00
R0645:Frem1	UTSW	4	82989166	missense	probably damaging	1.00
R0781:Frem1	UTSW	4	82950320	missense	probably damaging	0.99
R1110:Frem1	UTSW	4	82950320	missense	probably damaging	0.99
R1115:Frem1	UTSW	4	83020770	missense	probably benign	0.28
R1130:Frem1	UTSW	4	82916628	splice site	probably null
R1173:Frem1	UTSW	4	82950352	missense	probably benign	0.16
R1349:Frem1	UTSW	4	82922305	splice site	probably benign
R1464:Frem1	UTSW	4	83011879	missense	probably damaging	1.00
R1464:Frem1	UTSW	4	83011879	missense	probably damaging	1.00
R1658:Frem1	UTSW	4	83001808	missense	probably damaging	1.00
R1831:Frem1	UTSW	4	83020837	missense	possibly damaging	0.95
R1851:Frem1	UTSW	4	82950500	missense	probably damaging	0.98
R2014:Frem1	UTSW	4	83005852	missense	probably damaging	1.00
R2021:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2022:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2023:Frem1	UTSW	4	82913558	missense	probably benign	0.02
R2183:Frem1	UTSW	4	82991495	missense	probably benign	0.00
R2437:Frem1	UTSW	4	83000173	missense	probably damaging	1.00
R2520:Frem1	UTSW	4	82950290	missense	probably damaging	0.99
R3195:Frem1	UTSW	4	83014114	missense	probably damaging	0.99
R3196:Frem1	UTSW	4	83014114	missense	probably damaging	0.99
R3408:Frem1	UTSW	4	83011986	missense	probably damaging	1.00
R3411:Frem1	UTSW	4	82963179	missense	possibly damaging	0.51
R3742:Frem1	UTSW	4	83011867	missense	probably damaging	1.00
R3829:Frem1	UTSW	4	82998930	missense	probably damaging	1.00
R3888:Frem1	UTSW	4	82913607	missense	probably benign	0.41
R4329:Frem1	UTSW	4	82986537	missense	probably benign	0.01
R4364:Frem1	UTSW	4	82913251	missense	probably damaging	0.99
R4411:Frem1	UTSW	4	82963244	missense	probably damaging	1.00
R4624:Frem1	UTSW	4	82989106	missense	probably damaging	1.00
R4687:Frem1	UTSW	4	83020631	missense	probably damaging	1.00
R4764:Frem1	UTSW	4	82989189	missense	probably damaging	1.00
R4801:Frem1	UTSW	4	82916628	splice site	probably benign
R4802:Frem1	UTSW	4	82916628	splice site	probably benign
R4854:Frem1	UTSW	4	82916758	missense	possibly damaging	0.88
R4872:Frem1	UTSW	4	82963150	missense	probably damaging	1.00
R4947:Frem1	UTSW	4	82966134	missense	probably damaging	0.99
R5007:Frem1	UTSW	4	82940812	intron	probably benign
R5103:Frem1	UTSW	4	82991612	missense	probably benign
R5369:Frem1	UTSW	4	83001739	missense	possibly damaging	0.61
R5494:Frem1	UTSW	4	82940753	makesense	probably null
R5694:Frem1	UTSW	4	82994116	missense	probably damaging	1.00
R5780:Frem1	UTSW	4	82950415	missense	probably benign	0.12
R5813:Frem1	UTSW	4	83000158	missense	probably damaging	1.00
R5843:Frem1	UTSW	4	82936052	missense	probably damaging	1.00
R5914:Frem1	UTSW	4	83001775	missense	probably damaging	1.00
R5985:Frem1	UTSW	4	82966050	missense	probably benign
R6091:Frem1	UTSW	4	82900559	missense	probably benign	0.01
R6165:Frem1	UTSW	4	82956255	missense	probably benign	0.16
R6324:Frem1	UTSW	4	82983337	missense	probably benign	0.00
R6369:Frem1	UTSW	4	82913792	intron	probably null
R6414:Frem1	UTSW	4	82940536	missense	probably damaging	0.98
R6421:Frem1	UTSW	4	82994128	missense	probably damaging	1.00
R6434:Frem1	UTSW	4	82966016	missense	probably benign	0.03
R6453:Frem1	UTSW	4	82914825	nonsense	probably null
R6598:Frem1	UTSW	4	83013828	missense	probably damaging	0.99
R6720:Frem1	UTSW	4	83013832	missense	probably damaging	0.98
R6862:Frem1	UTSW	4	83012014	nonsense	probably null
R6922:Frem1	UTSW	4	82922269	missense	probably damaging	1.00
R6931:Frem1	UTSW	4	82970677	missense	probably damaging	1.00
R6992:Frem1	UTSW	4	82940362	missense	possibly damaging	0.62
R6995:Frem1	UTSW	4	82986601	missense	probably damaging	1.00
R7001:Frem1	UTSW	4	82986561	missense	probably benign	0.44
R7104:Frem1	UTSW	4	82940681	missense	probably benign	0.30
R7146:Frem1	UTSW	4	82922295	missense	possibly damaging	0.93
R7174:Frem1	UTSW	4	82922256	missense	probably benign	0.00
R7327:Frem1	UTSW	4	83020755	missense	possibly damaging	0.87
R7343:Frem1	UTSW	4	82994122	missense	probably damaging	0.99
R7368:Frem1	UTSW	4	82966144	missense	probably benign	0.19
R7392:Frem1	UTSW	4	83013827	missense	probably benign	0.06
R7465:Frem1	UTSW	4	82914835	missense	probably benign	0.11
R7499:Frem1	UTSW	4	83005770	missense	probably damaging	1.00
R7536:Frem1	UTSW	4	82956195	missense	probably damaging	1.00
R7752:Frem1	UTSW	4	82959377	missense	probably benign	0.02
R7753:Frem1	UTSW	4	82913980	missense	probably benign	0.03
R7790:Frem1	UTSW	4	82989164	missense	probably benign	0.02
R7818:Frem1	UTSW	4	83014008	missense	probably damaging	1.00
R7877:Frem1	UTSW	4	83013812	critical splice donor site	probably null
R7878:Frem1	UTSW	4	83020680	missense	probably benign	0.00
R7886:Frem1	UTSW	4	83016406	missense	possibly damaging	0.68
R7901:Frem1	UTSW	4	82959377	missense	probably benign	0.02
R7960:Frem1	UTSW	4	83013812	critical splice donor site	probably null
R7961:Frem1	UTSW	4	83020680	missense	probably benign	0.00
R7969:Frem1	UTSW	4	83016406	missense	possibly damaging	0.68
R7984:Frem1	UTSW	4	82959377	missense	probably benign	0.02
X0013:Frem1	UTSW	4	82914808	missense	probably benign	0.38
X0017:Frem1	UTSW	4	82991633	critical splice acceptor site	probably null
Z1088:Frem1	UTSW	4	82972267	missense	probably damaging	1.00
Z1176:Frem1	UTSW	4	82999983	missense	probably damaging	1.00
Z1177:Frem1	UTSW	4	82940315	critical splice donor site	probably null
Z1177:Frem1	UTSW	4	83000269	missense	probably benign	0.39
Z1177:Frem1	UTSW	4	83016464	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTTAGAAAAGTGCAGGCATAGTCG -3'
(R):5'- GGTTCCGGTGCTAAACCTCAAGATAAC -3'

Sequencing Primer
(F):5'- ggtaggggtgggggtgg -3'
(R):5'- ATCTCCACATTGAGATAGGGC -3'

Posted On

2014-05-09