Mutagenetix > Incidental Mutation

Incidental Mutation 'R3943:Fam227a'

307560

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

040924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3943 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 79620859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]

AlphaFold

Q9D3V8

Predicted Effect

probably benign
Transcript: ENSMUST00000109646

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
low complexity region	156	175	N/A	INTRINSIC
low complexity region	204	211	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109648

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	134	295	1.4e-51	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187519

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	132	295	1e-47	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191401

Predicted Effect

probably benign
Transcript: ENSMUST00000229064

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231122

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,269,524	L603*	probably null	Het
6030419C18Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,499,432		probably benign	Het
Adnp	A	G	2: 168,185,060	I105T	possibly damaging	Het
Atf3	A	G	1: 191,171,516	I171T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,055,517	I773V	probably benign	Het
Cad	T	A	5: 31,072,385		probably null	Het
Camkv	T	A	9: 107,947,983	D366E	possibly damaging	Het
Dnah8	T	A	17: 30,694,065		probably benign	Het
Dock7	A	G	4: 98,992,431	S932P	probably damaging	Het
Fbp2	A	G	13: 62,841,793	F233S	possibly damaging	Het
Gm7534	T	C	4: 134,200,345	T366A	probably benign	Het
Gnptab	G	T	10: 88,433,894	V820L	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpr158	C	A	2: 21,368,559	R102S	possibly damaging	Het
Gramd1b	A	T	9: 40,531,044	M1K	probably null	Het
H2-T23	A	G	17: 36,030,643	V312A	probably benign	Het
Hltf	A	T	3: 20,092,744	I494F	probably damaging	Het
Il16	G	A	7: 83,652,015	L300F	probably damaging	Het
Kcnq1	T	C	7: 143,426,088	L657P	probably damaging	Het
Krt4	G	A	15: 101,921,250	T281M	probably benign	Het
Mia3	A	G	1: 183,358,783	F196S	possibly damaging	Het
Naip6	T	C	13: 100,294,739	T1197A	probably benign	Het
Nrxn2	T	A	19: 6,473,335	N204K	probably damaging	Het
Olfr845	T	A	9: 19,339,075	M205K	probably benign	Het
Rassf6	G	T	5: 90,604,326	Q258K	possibly damaging	Het
Rhpn1	T	C	15: 75,711,806	L380P	probably damaging	Het
Ribc2	A	G	15: 85,135,250	M78V	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Skint5	T	A	4: 113,942,753	H73L	probably damaging	Het
Smg6	G	A	11: 74,929,541	G213R	probably damaging	Het
Sspn	T	A	6: 145,934,357	W62R	probably damaging	Het
Stard9	A	G	2: 120,698,229	S1656G	probably benign	Het
Svep1	T	A	4: 58,084,807		probably null	Het
Tab1	T	C	15: 80,153,740	L258P	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Trf	T	A	9: 103,222,952	I271F	probably benign	Het
Trpm7	A	T	2: 126,831,218	N538K	possibly damaging	Het
Usp28	T	A	9: 49,000,366	L25I	probably benign	Het
Vmn2r14	A	T	5: 109,216,064	I662N	probably damaging	Het
Vmn2r42	A	T	7: 8,194,780	F280Y	possibly damaging	Het
Vps8	A	T	16: 21,470,123	N411Y	probably damaging	Het
Vwa2	T	G	19: 56,909,315	L684R	probably damaging	Het
Zfp712	T	C	13: 67,041,332	Q377R	probably benign	Het
Zfp947	C	A	17: 22,145,820	G291V	probably damaging	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79634073	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79649655	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79612546	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79643938	intron	probably benign
IGL02362:Fam227a	APN	15	79643938	intron	probably benign
IGL02569:Fam227a	APN	15	79634122	missense	probably benign
IGL02713:Fam227a	APN	15	79636796	splice site	probably benign
IGL02734:Fam227a	APN	15	79617841	splice site	probably benign
IGL02816:Fam227a	APN	15	79626296	missense	possibly damaging	0.66
IGL03354:Fam227a	APN	15	79636750	missense	possibly damaging	0.91
R0105:Fam227a	UTSW	15	79620832	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79640669	nonsense	probably null
R0437:Fam227a	UTSW	15	79643988	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79626268	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79620805	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79612537	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79634108	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79615381	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79626245	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79636762	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79620677	splice site	probably null
R1669:Fam227a	UTSW	15	79620677	splice site	probably null
R1967:Fam227a	UTSW	15	79637134	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79626276	missense	possibly damaging	0.83
R2197:Fam227a	UTSW	15	79623467	missense	probably damaging	0.97
R2230:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79636734	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79648733	splice site	probably null
R4811:Fam227a	UTSW	15	79615427	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79649711	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79637054	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79637061	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79640003	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79636735	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79615436	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79640058	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79640694	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79643350	missense	possibly damaging	0.53
R6532:Fam227a	UTSW	15	79636720	missense	probably benign	0.00
R7239:Fam227a	UTSW	15	79634062	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79617766	missense	probably benign
R7719:Fam227a	UTSW	15	79620712	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79634098	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79649758	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79640660	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79630070	missense	possibly damaging	0.53
R9014:Fam227a	UTSW	15	79620757	missense	possibly damaging	0.96
R9034:Fam227a	UTSW	15	79648751	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79617777	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79634083	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79642243	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CATCCTGCTGACTGCTACAG -3'
(R):5'- CATAGTGGTACAGCCTTTCTCC -3'

Sequencing Primer
(F):5'- TGCTGACTGCTACAGTGGAC -3'
(R):5'- CTTCCCCGGCTGGCCATC -3'

Posted On

2015-04-17