Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Fam227b'

390614

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5013 (G1)

Quality Score

160

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	T	C	9: 36,637,824	N47D	probably benign	Het
Abca12	A	G	1: 71,264,767	L2117P	probably damaging	Het
Ago3	A	T	4: 126,368,598	S386R	probably benign	Het
Agxt	T	C	1: 93,142,057		probably benign	Het
Ahctf1	A	T	1: 179,784,110	I565N	possibly damaging	Het
Ank1	C	T	8: 23,082,284	T70I	probably damaging	Het
Anxa1	A	G	19: 20,382,923	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819	F225L	probably damaging	Het
Atp11b	T	G	3: 35,834,383	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,350,748	L42Q	probably damaging	Het
Bcr	A	G	10: 75,125,066	D443G	probably benign	Het
Cbfa2t3	G	T	8: 122,638,859	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,333,038	L96Q	probably damaging	Het
Cdh16	A	G	8: 104,617,028	I612T	probably damaging	Het
Clcn2	G	A	16: 20,707,215	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,914,776	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,710,171	D381E	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,757,773	R521*	probably null	Het
Dst	T	C	1: 34,250,647	V5776A	probably damaging	Het
Epp13	G	A	7: 6,266,333		probably benign	Het
Ercc4	G	A	16: 13,123,581		probably benign	Het
Eya1	T	A	1: 14,184,358	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,363,371	H219Q	possibly damaging	Het
Fbxw17	C	T	13: 50,432,470	R403C	probably benign	Het
Fer1l4	T	C	2: 156,031,215	Y1315C	probably damaging	Het
Gatd1	G	T	7: 141,408,948		probably benign	Het
Gm10330	A	T	12: 23,779,960	Y73*	probably null	Het
Gm21319	T	A	12: 87,773,742	K16*	probably null	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Gsn	T	A	2: 35,298,921	Y440N	probably damaging	Het
Hdc	C	T	2: 126,604,300	E180K	probably benign	Het
Ilk	A	G	7: 105,742,249	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807	R813Q	probably damaging	Het
Itln1	T	A	1: 171,533,390	K45*	probably null	Het
Ivd	A	G	2: 118,880,465	Y385C	probably damaging	Het
Klk1b4	A	G	7: 44,211,068	N170S	probably benign	Het
Klk9	A	C	7: 43,795,995	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,925,148	R27S	probably damaging	Het
Lcn6	T	A	2: 25,677,070		probably null	Het
Lrriq1	T	C	10: 103,189,923	D946G	probably damaging	Het
Morc1	A	G	16: 48,502,336	D332G	probably benign	Het
Myo15	T	C	11: 60,491,667	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,195,879	M365K	probably benign	Het
Nckap5l	G	T	15: 99,426,576	P682Q	probably benign	Het
Nfix	A	G	8: 84,772,084	F87L	possibly damaging	Het
Nup155	C	A	15: 8,124,238	T421K	probably benign	Het
Olfr1055	A	T	2: 86,347,303	F154L	probably benign	Het
Olfr209	A	T	16: 59,361,704	N171K	probably damaging	Het
Olfr291	T	C	7: 84,856,438	V23A	probably damaging	Het
Olfr367-ps	A	G	2: 37,270,925		noncoding transcript	Het
Pds5a	A	C	5: 65,635,337	V751G	probably benign	Het
Podnl1	G	T	8: 84,126,336	C45F	probably damaging	Het
Psme2b	C	T	11: 48,945,827	E98K	probably benign	Het
Ptprk	T	A	10: 28,551,717	I764N	probably damaging	Het
Rbm33	A	T	5: 28,342,411	Q193L	probably benign	Het
Rnasel	C	A	1: 153,753,931	H64Q	probably damaging	Het
Ryr1	G	A	7: 29,102,809		probably null	Het
Scamp3	A	G	3: 89,180,909		probably benign	Het
Sema6b	C	T	17: 56,132,497		probably null	Het
Six4	A	C	12: 73,103,626	I715R	probably benign	Het
Slc28a2	T	C	2: 122,457,890	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,376,952		probably benign	Het
Spdya	A	T	17: 71,562,504	Y98F	possibly damaging	Het
Tert	T	C	13: 73,646,309		probably null	Het
Tex22	G	A	12: 113,088,484	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,802,073	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,116,255	Q42*	probably null	Het
Trcg1	T	C	9: 57,242,279	L378P	probably damaging	Het
Trpv5	T	G	6: 41,659,713	D433A	probably damaging	Het
Ube3b	A	G	5: 114,407,641	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Vwa7	A	T	17: 35,022,733	Y448F	probably damaging	Het
Zan	A	C	5: 137,383,837	D5149E	unknown	Het
Zfp106	A	G	2: 120,510,534	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438	G514S	probably damaging	Het
Zhx1	G	A	15: 58,054,142	T236I	possibly 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
R4989:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5011: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'- CCAATGTTTTGGTTGGAGCAAATACTC -3'
(R):5'- AGTGCTACCAGATAGACTCAGTTTG -3'

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

Posted On

2016-06-06