Mutagenetix > Incidental Mutation

Incidental Mutation 'R4989:Fam227b'

385999

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

042583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4989 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126116123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 241 (P241S)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]

AlphaFold

Q9D518

Predicted Effect

probably damaging
Transcript: ENSMUST00000110446
AA Change: P241S

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

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: P241S

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	136	293	7.6e-54	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110448
AA Change: P241S

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

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: P241S

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	136	293	3.8e-54	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156413

Predicted Effect

probably damaging
Transcript: ENSMUST00000178118
AA Change: P241S

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

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: P241S

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	140	293	7.2e-50	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Meta Mutation Damage Score

0.2711

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (115/115)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4931406P16Rik	A	C	7: 34,245,800	Y552D	probably damaging	Het
Acot6	A	G	12: 84,109,015	K246E	probably benign	Het
Actl11	T	A	9: 107,931,416	H979Q	probably damaging	Het
Adal	T	A	2: 121,155,549		probably benign	Het
Add2	G	A	6: 86,110,858	V596I	probably benign	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Akap2	T	A	4: 57,856,552	V668E	probably benign	Het
Ank1	T	C	8: 23,141,118		probably benign	Het
Ank2	A	T	3: 126,963,445	N1054K	possibly damaging	Het
Ankib1	T	C	5: 3,713,217	Y504C	probably damaging	Het
Ankrd29	T	C	18: 12,262,185	K217R	probably damaging	Het
Ankrd45	T	C	1: 161,155,306	V129A	probably damaging	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Aph1a	G	T	3: 95,895,531	G148W	probably damaging	Het
Arhgef26	G	A	3: 62,340,385	D297N	possibly damaging	Het
Atxn7l3b	C	A	10: 112,928,744		probably benign	Het
Auh	A	G	13: 52,841,029	S167P	probably damaging	Het
Bach1	A	T	16: 87,719,000	K143I	possibly damaging	Het
Bbx	T	A	16: 50,224,738	T487S	probably damaging	Het
Bche	T	G	3: 73,701,844	D83A	probably benign	Het
Bri3bp	G	T	5: 125,441,696		probably benign	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cdc42bpa	A	G	1: 180,137,801	T1028A	probably damaging	Het
Celsr2	T	C	3: 108,412,629	I956V	possibly damaging	Het
Cep95	A	T	11: 106,816,654		probably null	Het
Cic	G	T	7: 25,287,110	G1289C	probably damaging	Het
Cndp1	A	G	18: 84,631,900	Y223H	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Ctsm	A	G	13: 61,538,962	Y39H	probably damaging	Het
Dhrs2	T	C	14: 55,237,265	V119A	probably damaging	Het
Drosha	T	A	15: 12,935,007	M1336K	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Erich3	C	T	3: 154,748,388	T597I	possibly damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fcgrt	C	T	7: 45,101,948	G192D	probably benign	Het
Fras1	A	G	5: 96,650,682	E1184G	possibly damaging	Het
Gm5155	A	G	7: 17,905,218		probably null	Het
Gm8989	A	T	7: 106,329,457		noncoding transcript	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Hadh	A	T	3: 131,235,548	L274*	probably null	Het
Hus1	T	C	11: 9,006,027	S169G	probably damaging	Het
Hydin	A	T	8: 110,563,922	I3338F	possibly damaging	Het
Ighv11-1	T	G	12: 113,982,148	E28D	probably benign	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Krit1	A	T	5: 3,822,238	N421I	probably damaging	Het
Lamb1	A	G	12: 31,326,678	D1619G	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrrc37a	G	C	11: 103,456,739	F3043L	unknown	Het
Lrrc46	A	T	11: 97,040,939	V19D	probably damaging	Het
Mapkap1	G	T	2: 34,581,291	S197I	probably damaging	Het
Mrps35	A	C	6: 147,060,147	K173N	possibly damaging	Het
Mtf2	A	G	5: 108,073,028		probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Ncf1	A	C	5: 134,223,413	D261E	probably damaging	Het
Notch1	C	T	2: 26,481,181	E298K	probably damaging	Het
Nrxn1	A	T	17: 90,620,846		probably benign	Het
Olfr110	G	T	17: 37,499,126	L158F	probably benign	Het
Olfr1274-ps	T	A	2: 90,400,763	M34K	probably benign	Het
Olfr195	T	C	16: 59,149,618	L256P	probably damaging	Het
Olfr46	C	A	7: 140,610,391	A75E	possibly damaging	Het
Olfr622	A	G	7: 103,640,101	F13S	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Papolg	T	C	11: 23,873,919		probably null	Het
Pgk2	A	G	17: 40,207,511	V342A	probably damaging	Het
Phf2	G	A	13: 48,807,844	A790V	unknown	Het
Prkdc	T	C	16: 15,673,997	I602T	possibly damaging	Het
Prl3d3	T	C	13: 27,159,089	I86T	possibly damaging	Het
Prss8	G	T	7: 127,926,463	Q295K	probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrfpr	A	G	3: 36,222,136	V35A	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Rpl41	G	T	10: 128,548,783		probably null	Het
Rprd2	G	C	3: 95,765,320	R924G	probably benign	Het
Serpini1	T	A	3: 75,614,488	N95K	probably benign	Het
Sfxn1	A	T	13: 54,088,914	T64S	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc25a4	T	A	8: 46,207,472	K296N	probably benign	Het
Slc37a1	A	G	17: 31,322,146	N204S	probably damaging	Het
Slc9c1	A	G	16: 45,593,437	N976S	probably benign	Het
Smarcal1	T	C	1: 72,632,860	S847P	possibly damaging	Het
Smg1	A	T	7: 118,158,100		probably benign	Het
Smg1	C	T	7: 118,208,051	A168T	probably benign	Het
Sptlc1	A	G	13: 53,351,656	I242T	probably damaging	Het
St8sia2	T	C	7: 73,966,961	I89V	possibly damaging	Het
Supt20	A	T	3: 54,695,134		probably benign	Het
Tep1	T	C	14: 50,839,000	D1659G	probably benign	Het
Tex10	C	A	4: 48,458,525		probably benign	Het
Thbs3	CAGAAG	CAG	3: 89,223,102		probably benign	Het
Tmbim6	C	A	15: 99,402,069	S22*	probably null	Het
Tmc2	A	T	2: 130,202,041	K65M	possibly damaging	Het
Tmod1	A	G	4: 46,090,872	S142G	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trmt6	T	C	2: 132,808,271	R349G	possibly damaging	Het
Ttn	T	A	2: 76,707,242	T26454S	possibly damaging	Het
Ttn	C	T	2: 76,774,778	V16555I	probably benign	Het
Ubr3	T	C	2: 70,020,446		probably benign	Het
Vmn1r17	A	C	6: 57,360,475	F253V	possibly damaging	Het
Vmn1r201	G	T	13: 22,475,452	A279S	possibly damaging	Het
Vmn2r17	A	T	5: 109,427,873	R203S	probably benign	Het
Vwa5a	A	G	9: 38,722,630	E43G	probably benign	Het
Wdr86	C	T	5: 24,712,845		probably null	Het
Wdsub1	A	T	2: 59,870,414		probably benign	Het
Zcchc11	T	A	4: 108,526,845		probably benign	Het
Zcchc7	T	C	4: 44,931,039	L76P	probably damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	Het
Zfp263	T	C	16: 3,749,128	C148R	probably damaging	Het
Zfp687	A	C	3: 95,010,386	F692V	probably damaging	Het

Other mutations in Fam227b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Fam227b	APN	2	126144325	critical splice acceptor site	probably null
IGL00970:Fam227b	APN	2	126127060	missense	probably benign	0.01
IGL02040:Fam227b	APN	2	126121084	splice site	probably benign
IGL02095:Fam227b	APN	2	126101004	missense	probably damaging	0.97
IGL02352:Fam227b	APN	2	126146254	unclassified	probably benign
IGL02359:Fam227b	APN	2	126146254	unclassified	probably benign
IGL02506:Fam227b	APN	2	126003911	missense	probably benign	0.22
IGL02717:Fam227b	APN	2	126003843	missense	probably null	0.97
IGL02933:Fam227b	APN	2	126123988	splice site	probably null
IGL03064:Fam227b	APN	2	126126842	splice site	probably null
IGL03086:Fam227b	APN	2	126119031	missense	probably benign	0.01
IGL03198:Fam227b	APN	2	126124579	critical splice donor site	probably null
IGL03256:Fam227b	APN	2	125989003	missense	probably damaging	0.99
IGL03368:Fam227b	APN	2	126119063	missense	probably damaging	1.00
dana	UTSW	2	126116123	missense	probably damaging	1.00
R0071:Fam227b	UTSW	2	126124074	missense	probably benign	0.04
R0071:Fam227b	UTSW	2	126124074	missense	probably benign	0.04
R0110:Fam227b	UTSW	2	126100921	missense	probably damaging	1.00
R0140:Fam227b	UTSW	2	126124603	missense	possibly damaging	0.53
R0377:Fam227b	UTSW	2	126125000	splice site	probably benign
R0499:Fam227b	UTSW	2	126100909	missense	probably benign	0.25
R1240:Fam227b	UTSW	2	126124585	missense	possibly damaging	0.56
R1356:Fam227b	UTSW	2	126119008	missense	probably damaging	1.00
R1404:Fam227b	UTSW	2	126003839	missense	probably damaging	0.99
R1404:Fam227b	UTSW	2	126003839	missense	probably damaging	0.99
R2055:Fam227b	UTSW	2	126100954	missense	probably benign	0.13
R2884:Fam227b	UTSW	2	126100926	missense	probably benign	0.01
R3124:Fam227b	UTSW	2	126124086	missense	probably benign	0.36
R3125:Fam227b	UTSW	2	126124086	missense	probably benign	0.36
R3937:Fam227b	UTSW	2	126127060	missense	probably benign	0.01
R4408:Fam227b	UTSW	2	126116125	missense	possibly damaging	0.47
R4454:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4455:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4457:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4558:Fam227b	UTSW	2	126127043	missense	probably benign	0.00
R4661:Fam227b	UTSW	2	126007310	missense	probably damaging	0.99
R4809:Fam227b	UTSW	2	126116125	missense	possibly damaging	0.47
R4810:Fam227b	UTSW	2	125987939	missense	probably benign	0.01
R5011:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5013:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5014:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5133:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5184:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5431:Fam227b	UTSW	2	126126931	missense	probably benign	0.09
R5797:Fam227b	UTSW	2	126007334	missense	probably benign
R6056:Fam227b	UTSW	2	126121052	missense	probably damaging	1.00
R6218:Fam227b	UTSW	2	126126962	missense	probably damaging	1.00
R6471:Fam227b	UTSW	2	126121065	missense	probably damaging	1.00
R6660:Fam227b	UTSW	2	126144307	missense	probably damaging	1.00
R6734:Fam227b	UTSW	2	126126976	nonsense	probably null
R7136:Fam227b	UTSW	2	126124028	missense	probably damaging	0.99
R7410:Fam227b	UTSW	2	126119063	missense	probably damaging	1.00
R8417:Fam227b	UTSW	2	126121062	missense	probably damaging	1.00
R8679:Fam227b	UTSW	2	125989008	missense	probably benign	0.02
R8731:Fam227b	UTSW	2	126126978	missense	possibly damaging	0.95
R8986:Fam227b	UTSW	2	126116099	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAATGTTTTGGTTGGAGCAAATAC -3'
(R):5'- AAGTGCTACCAGATAGACTCAGTTTG -3'

Sequencing Primer
(F):5'- TTGGTTGGAGCAAATACTCAATC -3'
(R):5'- TTTGCTCATGTTCCTCAATTAGAG -3'

Posted On

2016-05-10