Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Fam227b'

385410

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

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

Stock #

R5014 (G1)

Quality Score

143

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: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,543,933 (GRCm38)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,950,131 (GRCm38)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,284,871 (GRCm38)	T517A	probably benign	Het
Blk	T	G	14: 63,379,787 (GRCm38)	N257T	probably benign	Het
Brd4	A	T	17: 32,198,398 (GRCm38)		probably benign	Het
Calr4	C	T	4: 109,235,797 (GRCm38)	Q25*	probably null	Het
Casc1	T	C	6: 145,183,266 (GRCm38)	E407G	probably damaging	Het
Cbl	T	C	9: 44,154,399 (GRCm38)		probably null	Het
Ccdc30	T	G	4: 119,393,627 (GRCm38)	H6P	possibly damaging	Het
Cd101	A	C	3: 101,003,823 (GRCm38)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,665,339 (GRCm38)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,928,206 (GRCm38)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,627,375 (GRCm38)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,948,802 (GRCm38)	M58K	probably benign	Het
Clip1	T	C	5: 123,617,730 (GRCm38)	E860G	probably damaging	Het
Col18a1	C	T	10: 77,070,960 (GRCm38)		probably null	Het
Cul7	A	G	17: 46,655,942 (GRCm38)	*650W	probably null	Het
Dkk4	C	T	8: 22,625,299 (GRCm38)	A55V	probably benign	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
Dnase1	C	A	16: 4,039,016 (GRCm38)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,912,254 (GRCm38)	I1019S	probably benign	Het
Epha6	T	A	16: 59,666,579 (GRCm38)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,200,059 (GRCm38)	T408A	probably benign	Het
Fam71f1	C	T	6: 29,326,724 (GRCm38)		probably benign	Het
Galnt7	T	C	8: 57,545,380 (GRCm38)	E305G	probably damaging	Het
Git1	T	A	11: 77,498,995 (GRCm38)	V28E	probably damaging	Het
Gm10010	C	T	6: 128,200,593 (GRCm38)		noncoding transcript	Het
Gm4956	T	C	1: 21,293,597 (GRCm38)		noncoding transcript	Het
Gpr152	T	G	19: 4,143,507 (GRCm38)	V349G	probably benign	Het
Gtsf1l	C	T	2: 163,087,192 (GRCm38)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 82,046,667 (GRCm38)	G114A	probably benign	Het
Hk2	T	C	6: 82,743,955 (GRCm38)	Q166R	possibly damaging	Het
Hook2	A	G	8: 84,991,377 (GRCm38)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,721,559 (GRCm38)	M222K	probably damaging	Het
Ints6	A	T	14: 62,760,191 (GRCm38)	F55Y	probably benign	Het
Kcnh1	A	G	1: 192,277,080 (GRCm38)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,904,828 (GRCm38)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,936,395 (GRCm38)		probably benign	Het
Msh2	A	T	17: 87,717,576 (GRCm38)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,422,468 (GRCm38)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,591,242 (GRCm38)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,584,447 (GRCm38)		probably benign	Het
Olfr15	T	A	16: 3,839,048 (GRCm38)	I25N	probably benign	Het
Olfr281	T	C	15: 98,456,976 (GRCm38)	V222A	possibly damaging	Het
Olfr90	T	A	17: 37,085,554 (GRCm38)	I204F	probably benign	Het
P3h3	T	A	6: 124,855,236 (GRCm38)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,865,363 (GRCm38)	L837*	probably null	Het
Ppp2r1a	G	A	17: 20,958,839 (GRCm38)		probably null	Het
Rabgap1	T	A	2: 37,487,140 (GRCm38)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,495,535 (GRCm38)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,464,120 (GRCm38)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,470,960 (GRCm38)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,017,813 (GRCm38)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,910,547 (GRCm38)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,391,153 (GRCm38)	L315R	probably damaging	Het
Skiv2l	A	G	17: 34,847,425 (GRCm38)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,400,161 (GRCm38)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,761,040 (GRCm38)	K62*	probably null	Het
Sox30	T	C	11: 45,991,909 (GRCm38)	S589P	probably benign	Het
Sp110	A	C	1: 85,577,329 (GRCm38)	F434C	probably benign	Het
Ssh2	T	A	11: 77,455,276 (GRCm38)	C1362*	probably null	Het
Tecta	C	T	9: 42,373,242 (GRCm38)	C849Y	probably damaging	Het
Thbs1	T	A	2: 118,120,037 (GRCm38)		probably null	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tyk2	C	T	9: 21,115,830 (GRCm38)		probably null	Het
Tyw5	C	A	1: 57,406,845 (GRCm38)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm38)	T761A	probably benign	Het
Wdfy4	A	T	14: 33,100,940 (GRCm38)	C1401S	probably benign	Het
Wiz	T	C	17: 32,359,366 (GRCm38)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,014,749 (GRCm38)	E475K	unknown	Het
Zcchc11	T	C	4: 108,526,846 (GRCm38)		probably benign	Het
Zfp108	G	T	7: 24,260,738 (GRCm38)	K251N	probably benign	Het
Zfp184	A	G	13: 21,958,424 (GRCm38)	D100G	probably benign	Het
Zfp990	T	A	4: 145,538,099 (GRCm38)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm38)	P189L	probably damaging	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
R4809:Fam227b	UTSW	2	126,116,125 (GRCm38)	missense	possibly damaging	0.47
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
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'- TGCTACCAGATAGACTCAGTTTGTAAC -3'

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

Posted On

2016-05-10