Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Fam227a'

654181

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79630070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 363 (S363L)

Ref Sequence

ENSEMBL: ENSMUSP00000139524 (fasta)

Gene Model

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

AlphaFold

Q9D3V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109646
AA Change: S7L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: S7L

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

possibly damaging
Transcript: ENSMUST00000109648
AA Change: S363L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: S363L

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

possibly damaging
Transcript: ENSMUST00000187519
AA Change: S363L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: S363L

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

possibly damaging
Transcript: ENSMUST00000229064
AA Change: S359L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,770,701	L482S	probably damaging	Het
Abca7	A	T	10: 80,006,161	T1043S	probably benign	Het
Acadvl	T	A	11: 70,011,728	K410*	probably null	Het
Adam8	C	T	7: 139,987,849	G354D	probably benign	Het
Ahctf1	T	C	1: 179,762,610	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,274,589	Q949K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc141	T	A	2: 77,059,550	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cyp4a30b	C	A	4: 115,457,775	Q185K	probably benign	Het
Dlx2	A	T	2: 71,545,538	I147K	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Dock7	C	A	4: 99,083,029	V100F		Het
Dspp	C	A	5: 104,177,296	D508E	unknown	Het
Duox2	G	T	2: 122,298,155	T4K	probably benign	Het
Ear1	T	C	14: 43,819,247	N55D	probably damaging	Het
Echdc1	G	C	10: 29,334,246	E179Q	probably damaging	Het
Ehbp1	T	C	11: 22,096,109	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,428,972	N630S	possibly damaging	Het
Fam98b	A	G	2: 117,270,900	R398G	unknown	Het
Fsip2	G	A	2: 82,977,086	D1250N	probably benign	Het
Gdnf	G	T	15: 7,834,653	E182*	probably null	Het
Gys2	T	C	6: 142,461,195	H145R	probably benign	Het
Hcls1	A	G	16: 36,946,641	K69R	probably benign	Het
Itih5	A	G	2: 10,235,058	N332S	probably benign	Het
Kcnb2	T	A	1: 15,312,710	Y87N	probably damaging	Het
Lrriq3	A	G	3: 155,188,236	N525D	probably damaging	Het
Lsg1	A	T	16: 30,561,751	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,072	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814	Y81H	probably damaging	Het
Nup54	T	G	5: 92,425,746	N199T	probably benign	Het
Olfr1136	A	T	2: 87,693,744	I46N	probably damaging	Het
Olfr1261	C	T	2: 89,994,004	L204F	probably benign	Het
Olfr39	T	A	9: 20,286,041	L122*	probably null	Het
Olfr727	T	C	14: 50,127,147	I190T	probably benign	Het
Olfr91	A	G	17: 37,093,772	L34P	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462	F13L	possibly damaging	Het
Pih1d3	T	A	1: 31,223,268	D110E	probably damaging	Het
Plcb1	T	C	2: 135,250,052		probably null	Het
Ppfibp1	T	C	6: 147,000,950	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,055,262	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,625,556	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,955,133	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,652,833	M151I	probably benign	Het
Tarm1	G	T	7: 3,497,521	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,855,577	I47T	probably damaging	Het
Tmod3	T	C	9: 75,529,398	D85G	probably damaging	Het
Trbv14	T	C	6: 41,135,365	L32P	probably benign	Het
Trim16	T	C	11: 62,850,588	L486P	probably benign	Het
Trmt1l	T	G	1: 151,449,976	S391A	probably benign	Het
Ush2a	T	A	1: 188,850,057	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 20,846,608	A20S	probably benign	Het
Wdr76	A	G	2: 121,510,698	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,580,678	L141S	probably benign	Het
Zfp988	A	G	4: 147,332,351	D414G	probably benign	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
R3943:Fam227a	UTSW	15	79620859	splice site	probably benign
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
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'- ACAACAATGTGCCCTCCGTG -3'
(R):5'- AGTGACACTCCATTGCTGC -3'

Sequencing Primer
(F):5'- TCCGTGCCCAGCTAGTG -3'
(R):5'- GGATGGGTGCAAGTATTTC -3'

Posted On

2020-10-20