Mutagenetix > Incidental Mutation

Incidental Mutation 'R4809:Fam227b'

370876

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

042428-MU

Accession Numbers

Essential gene?

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

Stock #

R4809 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126116125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 240 (Y240F)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

AlphaFold

Q9D518

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110446
AA Change: Y240F

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: Y240F

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

possibly damaging
Transcript: ENSMUST00000110448
AA Change: Y240F

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: Y240F

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

possibly damaging
Transcript: ENSMUST00000178118
AA Change: Y240F

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: Y240F

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

0.3315

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (96/100)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,662,631 (GRCm38)	V459A	probably benign	Het
Abca12	C	T	1: 71,278,856 (GRCm38)	A1840T	probably benign	Het
Abhd6	T	G	14: 8,039,771 (GRCm38)	M1R	probably null	Het
Abl1	T	C	2: 31,800,242 (GRCm38)	L572P	probably damaging	Het
Adamts2	C	A	11: 50,803,690 (GRCm38)	S1101R	probably benign	Het
Adgra2	G	A	8: 27,110,479 (GRCm38)	W200*	probably null	Het
AI661453	C	A	17: 47,467,187 (GRCm38)		probably benign	Het
Aldh1l2	A	G	10: 83,506,632 (GRCm38)	F438S	probably damaging	Het
Ankrd49	G	A	9: 14,781,214 (GRCm38)	T218I	possibly damaging	Het
Ano7	T	C	1: 93,394,566 (GRCm38)	F410L	probably benign	Het
Aox4	T	A	1: 58,266,649 (GRCm38)	F1271I	probably damaging	Het
Aqr	T	C	2: 114,175,214 (GRCm38)		probably benign	Het
Arhgap42	A	G	9: 9,180,117 (GRCm38)	S54P	probably damaging	Het
Aunip	C	A	4: 134,511,139 (GRCm38)	D16E	possibly damaging	Het
Btbd7	A	G	12: 102,793,744 (GRCm38)		probably null	Het
Cabp4	T	C	19: 4,139,291 (GRCm38)	H89R	probably benign	Het
Ccni	AAA	AAACTAA	5: 93,187,570 (GRCm38)		probably benign	Het
Chfr	C	T	5: 110,158,834 (GRCm38)	H410Y	probably damaging	Het
Churc1	C	A	12: 76,782,897 (GRCm38)	L111M	probably damaging	Het
Clasp1	C	T	1: 118,461,250 (GRCm38)	T113I	probably benign	Het
Col12a1	T	A	9: 79,693,567 (GRCm38)	Q745L	probably benign	Het
Col20a1	T	C	2: 180,998,661 (GRCm38)	L537P	probably damaging	Het
Creb5	A	T	6: 53,610,426 (GRCm38)	E47V	probably null	Het
Csnk1d	A	T	11: 120,963,842 (GRCm38)		probably benign	Het
Cts6	A	T	13: 61,202,181 (GRCm38)	W29R	probably damaging	Het
Dbt	T	A	3: 116,546,343 (GRCm38)	I420N	probably damaging	Het
Det1	C	A	7: 78,843,807 (GRCm38)	D150Y	probably damaging	Het
Dlk2	A	G	17: 46,299,014 (GRCm38)		probably null	Het
Dnmt3a	A	T	12: 3,900,352 (GRCm38)	I639F	probably damaging	Het
Dock9	A	T	14: 121,546,596 (GRCm38)	Y1989N	probably benign	Het
Dsg4	A	T	18: 20,466,621 (GRCm38)	T765S	possibly damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Fam189a1	G	A	7: 64,776,740 (GRCm38)	T159I	probably damaging	Het
Fbxw21	C	T	9: 109,143,390 (GRCm38)	V395I	probably damaging	Het
Fn1	C	A	1: 71,652,800 (GRCm38)		probably benign	Het
Fpr-rs3	A	T	17: 20,624,421 (GRCm38)	S153T	probably benign	Het
Frem2	A	G	3: 53,653,895 (GRCm38)	F1064L	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958 (GRCm38)		probably benign	Het
Gjd2	C	T	2: 114,011,541 (GRCm38)	G152R	probably damaging	Het
Gpr75	T	C	11: 30,892,154 (GRCm38)	I353T	possibly damaging	Het
Grb7	T	C	11: 98,451,436 (GRCm38)	V145A	possibly damaging	Het
Igkv4-73	G	A	6: 69,197,823 (GRCm38)	R40W	unknown	Het
Kif1c	C	T	11: 70,726,357 (GRCm38)	A839V	probably benign	Het
Krt31	G	A	11: 100,049,922 (GRCm38)	A125V	possibly damaging	Het
Lamb1	A	G	12: 31,278,526 (GRCm38)	Y163C	probably damaging	Het
Mars	G	T	10: 127,300,215 (GRCm38)	T535K	probably damaging	Het
Mdc1	T	C	17: 35,849,101 (GRCm38)		probably null	Het
Micu1	C	T	10: 59,740,822 (GRCm38)	H167Y	probably benign	Het
Minos1	C	G	4: 139,130,957 (GRCm38)	W10S	probably damaging	Het
Mrgprb1	C	T	7: 48,447,991 (GRCm38)	V58I	possibly damaging	Het
Ncoa7	T	A	10: 30,771,762 (GRCm38)	E6V	possibly damaging	Het
Nectin3	A	C	16: 46,448,160 (GRCm38)		probably benign	Het
Olfr1085	T	A	2: 86,657,685 (GRCm38)	M258L	possibly damaging	Het
Olfr1294	C	T	2: 111,537,611 (GRCm38)	C226Y	probably benign	Het
Olfr46	A	G	7: 140,611,074 (GRCm38)	K295E	probably damaging	Het
Olfr598	T	A	7: 103,328,523 (GRCm38)	Y12*	probably null	Het
Pex16	T	C	2: 92,376,638 (GRCm38)	S54P	probably damaging	Het
Pik3cg	A	T	12: 32,204,081 (GRCm38)	S636T	possibly damaging	Het
Plin5	A	G	17: 56,116,855 (GRCm38)	S27P	probably benign	Het
Ptch1	A	T	13: 63,513,708 (GRCm38)	D1068E	probably damaging	Het
Ptprq	T	C	10: 107,563,175 (GRCm38)	T1960A	probably damaging	Het
Rap1gap2	T	C	11: 74,407,974 (GRCm38)		probably benign	Het
Rcc2	G	A	4: 140,717,042 (GRCm38)	R348Q	probably damaging	Het
Rhbdd3	C	A	11: 5,105,949 (GRCm38)	A377D	probably damaging	Het
Rpl7	T	G	1: 16,101,965 (GRCm38)		probably benign	Het
Scn11a	G	T	9: 119,819,870 (GRCm38)	D42E	probably benign	Het
Scube3	C	T	17: 28,165,173 (GRCm38)	R549W	probably damaging	Het
Sil1	A	T	18: 35,325,375 (GRCm38)	M189K	probably damaging	Het
Slc39a6	G	A	18: 24,585,474 (GRCm38)	Q225*	probably null	Het
Slc7a15	A	T	12: 8,539,002 (GRCm38)	C182S	probably benign	Het
Spata21	G	A	4: 141,097,120 (GRCm38)		probably null	Het
Stim2	T	C	5: 54,110,613 (GRCm38)	V417A	probably damaging	Het
Szt2	T	C	4: 118,388,985 (GRCm38)	D993G	probably damaging	Het
Tet3	A	G	6: 83,402,946 (GRCm38)	S747P	probably benign	Het
Tmem86a	C	G	7: 47,052,930 (GRCm38)	S34R	possibly damaging	Het
Top2b	T	A	14: 16,383,125 (GRCm38)	S38T	probably benign	Het
Trim33	A	T	3: 103,329,256 (GRCm38)	T561S	possibly damaging	Het
Ttc39a	C	T	4: 109,416,021 (GRCm38)	Q25*	probably null	Het
Urb1	A	G	16: 90,759,842 (GRCm38)	I1816T	possibly damaging	Het
Usp24	T	C	4: 106,413,676 (GRCm38)		probably null	Het
Usp36	A	C	11: 118,263,070 (GRCm38)	L840R	probably damaging	Het
Usp50	C	A	2: 126,777,853 (GRCm38)		probably benign	Het
Vangl2	A	G	1: 172,009,663 (GRCm38)	V193A	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,867 (GRCm38)	H182Q	probably benign	Het
Vmn2r124	A	T	17: 18,073,745 (GRCm38)	Y698F	probably benign	Het
Wls	C	T	3: 159,897,445 (GRCm38)	T165I	probably benign	Het
Zfp808	G	T	13: 62,171,292 (GRCm38)	E112*	probably null	Het

Other mutations in Fam227b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Fam227b	APN	2	126,144,325 (GRCm38)	critical splice acceptor site	probably null
IGL00970:Fam227b	APN	2	126,127,060 (GRCm38)	missense	probably benign	0.01
IGL02040:Fam227b	APN	2	126,121,084 (GRCm38)	splice site	probably benign
IGL02095:Fam227b	APN	2	126,101,004 (GRCm38)	missense	probably damaging	0.97
IGL02352:Fam227b	APN	2	126,146,254 (GRCm38)	unclassified	probably benign
IGL02359:Fam227b	APN	2	126,146,254 (GRCm38)	unclassified	probably benign
IGL02506:Fam227b	APN	2	126,003,911 (GRCm38)	missense	probably benign	0.22
IGL02717:Fam227b	APN	2	126,003,843 (GRCm38)	missense	probably null	0.97
IGL02933:Fam227b	APN	2	126,123,988 (GRCm38)	splice site	probably null
IGL03064:Fam227b	APN	2	126,126,842 (GRCm38)	splice site	probably null
IGL03086:Fam227b	APN	2	126,119,031 (GRCm38)	missense	probably benign	0.01
IGL03198:Fam227b	APN	2	126,124,579 (GRCm38)	critical splice donor site	probably null
IGL03256:Fam227b	APN	2	125,989,003 (GRCm38)	missense	probably damaging	0.99
IGL03368:Fam227b	APN	2	126,119,063 (GRCm38)	missense	probably damaging	1.00
dana	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R0071:Fam227b	UTSW	2	126,124,074 (GRCm38)	missense	probably benign	0.04
R0071:Fam227b	UTSW	2	126,124,074 (GRCm38)	missense	probably benign	0.04
R0110:Fam227b	UTSW	2	126,100,921 (GRCm38)	missense	probably damaging	1.00
R0140:Fam227b	UTSW	2	126,124,603 (GRCm38)	missense	possibly damaging	0.53
R0377:Fam227b	UTSW	2	126,125,000 (GRCm38)	splice site	probably benign
R0499:Fam227b	UTSW	2	126,100,909 (GRCm38)	missense	probably benign	0.25
R1240:Fam227b	UTSW	2	126,124,585 (GRCm38)	missense	possibly damaging	0.56
R1356:Fam227b	UTSW	2	126,119,008 (GRCm38)	missense	probably damaging	1.00
R1404:Fam227b	UTSW	2	126,003,839 (GRCm38)	missense	probably damaging	0.99
R1404:Fam227b	UTSW	2	126,003,839 (GRCm38)	missense	probably damaging	0.99
R2055:Fam227b	UTSW	2	126,100,954 (GRCm38)	missense	probably benign	0.13
R2884:Fam227b	UTSW	2	126,100,926 (GRCm38)	missense	probably benign	0.01
R3124:Fam227b	UTSW	2	126,124,086 (GRCm38)	missense	probably benign	0.36
R3125:Fam227b	UTSW	2	126,124,086 (GRCm38)	missense	probably benign	0.36
R3937:Fam227b	UTSW	2	126,127,060 (GRCm38)	missense	probably benign	0.01
R4408:Fam227b	UTSW	2	126,116,125 (GRCm38)	missense	possibly damaging	0.47
R4454:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4455:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4457:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4558:Fam227b	UTSW	2	126,127,043 (GRCm38)	missense	probably benign	0.00
R4661:Fam227b	UTSW	2	126,007,310 (GRCm38)	missense	probably damaging	0.99
R4810:Fam227b	UTSW	2	125,987,939 (GRCm38)	missense	probably benign	0.01
R4989:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5011:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5013:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5014:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5133:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5184:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5431:Fam227b	UTSW	2	126,126,931 (GRCm38)	missense	probably benign	0.09
R5797:Fam227b	UTSW	2	126,007,334 (GRCm38)	missense	probably benign
R6056:Fam227b	UTSW	2	126,121,052 (GRCm38)	missense	probably damaging	1.00
R6218:Fam227b	UTSW	2	126,126,962 (GRCm38)	missense	probably damaging	1.00
R6471:Fam227b	UTSW	2	126,121,065 (GRCm38)	missense	probably damaging	1.00
R6660:Fam227b	UTSW	2	126,144,307 (GRCm38)	missense	probably damaging	1.00
R6734:Fam227b	UTSW	2	126,126,976 (GRCm38)	nonsense	probably null
R7136:Fam227b	UTSW	2	126,124,028 (GRCm38)	missense	probably damaging	0.99
R7410:Fam227b	UTSW	2	126,119,063 (GRCm38)	missense	probably damaging	1.00
R8417:Fam227b	UTSW	2	126,121,062 (GRCm38)	missense	probably damaging	1.00
R8679:Fam227b	UTSW	2	125,989,008 (GRCm38)	missense	probably benign	0.02
R8731:Fam227b	UTSW	2	126,126,978 (GRCm38)	missense	possibly damaging	0.95
R8986:Fam227b	UTSW	2	126,116,099 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2016-02-04