Mutagenetix > Incidental Mutation

Incidental Mutation 'R5797:Fam227b'

501526

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

043209-MU

Accession Numbers

Essential gene?

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

Stock #

R5797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126007334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 326 (I326S)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

AlphaFold

Q9D518

Predicted Effect

probably benign
Transcript: ENSMUST00000110446
AA Change: I326S

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

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: I326S

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 benign
Transcript: ENSMUST00000110448
AA Change: I326S

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

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: I326S

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 benign
Transcript: ENSMUST00000178118
AA Change: I326S

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

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: I326S

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,498,415	K30*	probably null	Het
Abhd18	T	C	3: 40,933,551	F277L	probably benign	Het
Acsf2	A	G	11: 94,571,679	V170A	probably damaging	Het
Amz2	G	T	11: 109,427,079		probably benign	Het
Atp4a	A	G	7: 30,712,649	Y65C	probably damaging	Het
Canx	T	C	11: 50,301,017	I356V	probably benign	Het
Cfap54	T	A	10: 92,967,576	T1535S	probably benign	Het
Cts3	A	T	13: 61,568,392	W52R	probably damaging	Het
Cyb5rl	A	T	4: 107,084,207	E276D	possibly damaging	Het
Dhx30	T	C	9: 110,098,820	N78S	probably damaging	Het
Dmap1	A	T	4: 117,675,480	V333E	possibly damaging	Het
Dnah10	A	G	5: 124,821,386	E3744G	probably benign	Het
Efcab6	C	T	15: 83,924,277	C828Y	possibly damaging	Het
Fbrs	C	A	7: 127,487,291	H604Q	probably damaging	Het
Fshr	T	G	17: 89,011,075	N129T	probably damaging	Het
Gja3	T	C	14: 57,035,713	R401G	probably damaging	Het
Gm572	G	A	4: 148,666,798	M209I	probably benign	Het
Gne	G	A	4: 44,060,030	T121M	probably damaging	Het
Gnmt	T	C	17: 46,726,379	N160D	probably damaging	Het
Kalrn	T	C	16: 34,212,249	Y1125C	probably damaging	Het
Kif2a	A	T	13: 106,975,376	C524S	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lrrtm2	C	T	18: 35,213,706	R181H	probably damaging	Het
Mkln1	A	G	6: 31,433,069	D214G	probably benign	Het
Muc5b	C	A	7: 141,851,582	T909N	unknown	Het
Myh13	T	A	11: 67,335,002	D335E	possibly damaging	Het
Myo5b	A	G	18: 74,701,521	E884G	probably benign	Het
Naip1	T	C	13: 100,444,526	D71G	possibly damaging	Het
Nxpe4	T	A	9: 48,396,538	I314N	possibly damaging	Het
Pcnt	T	C	10: 76,392,756	E1525G	probably benign	Het
Pkd1	T	A	17: 24,592,641	H153Q	possibly damaging	Het
Prkdc	T	A	16: 15,737,834	Y2157*	probably null	Het
Scd3	T	C	19: 44,215,511	I46T	probably benign	Het
Sdha	A	T	13: 74,334,357	M279K	probably damaging	Het
Slco4c1	A	G	1: 96,819,104	V671A	probably benign	Het
Slitrk3	T	A	3: 73,048,629	T937S	probably damaging	Het
Sncaip	A	T	18: 52,898,204	T442S	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
Vmn2r12	A	T	5: 109,085,870	C825*	probably null	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
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
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'- TCTAAGATACATGCTGGGGATATGC -3'
(R):5'- CAGCCACTTTAGCAGCACTCTC -3'

Sequencing Primer
(F):5'- AGATACATGCTGGGGATATGCTCATC -3'
(R):5'- ACTTTAGCAGCACTCTCCCTAC -3'

Posted On

2017-12-01