Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Fam217a'

480128

Institutional Source

Beutler Lab

Gene Symbol

Fam217a

Ensembl Gene

ENSMUSG00000021414

Gene Name

family with sequence similarity 217, member A

Synonyms

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34909960-34924310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34910994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 170 (T170S)

Ref Sequence

ENSEMBL: ENSMUSP00000153128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000077853] [ENSMUST00000223834] [ENSMUST00000225242]

AlphaFold

Q9D9W6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021851
AA Change: T261S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: T261S

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:FAM217	206	411	2e-54	PFAM
low complexity region	425	436	N/A	INTRINSIC
low complexity region	444	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077853

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413

Domain	Start	End	E-Value	Type
low complexity region	40	62	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	102	123	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	156	170	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
low complexity region	210	233	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	284	294	N/A	INTRINSIC
low complexity region	299	324	N/A	INTRINSIC
low complexity region	340	360	N/A	INTRINSIC
low complexity region	390	417	N/A	INTRINSIC
low complexity region	435	497	N/A	INTRINSIC
low complexity region	521	535	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC
S_TKc	687	1003	4.99e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223228

Predicted Effect

probably benign
Transcript: ENSMUST00000223834
AA Change: T413S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224613

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225242
AA Change: T170S

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,398,177	V2299A	probably benign	Het
Acacb	A	G	5: 114,165,600	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879	T763A	possibly damaging	Het
Armc9	G	C	1: 86,244,667	L105F	probably damaging	Het
Asah2	T	C	19: 32,044,951	N228D	probably benign	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578		probably null	Het
Csmd2	G	A	4: 128,559,946	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341		probably benign	Het
Dhrs4	A	G	14: 55,486,123	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947		probably null	Het
Efcab6	A	G	15: 83,967,721	F319L	probably benign	Het
Elane	A	T	10: 79,887,018	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597	Y197*	probably null	Het
Eno4	A	G	19: 58,946,830	D158G	probably damaging	Het
Fbxo7	A	G	10: 86,048,086	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611	N194K	possibly damaging	Het
Gm15448	T	C	7: 3,824,639	Y173C	possibly damaging	Het
Gnptab	A	G	10: 88,433,225	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059		probably null	Het
Kif1a	A	T	1: 93,025,643	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290		probably benign	Het
Lypla1	T	C	1: 4,837,076		probably null	Het
Man2b1	C	T	8: 85,096,752	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220	P1716S	possibly damaging	Het
Olfr1085	T	G	2: 86,657,804	Y218S	probably damaging	Het
Olfr157	A	G	4: 43,835,842	V216A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
P2ry6	T	G	7: 100,938,508	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677	I822V	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808		probably benign	Het
Sarm1	T	A	11: 78,483,558	M577L	probably benign	Het
Scin	T	C	12: 40,077,516	Y425C	probably damaging	Het
Serpina12	T	A	12: 104,031,077	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,582,852	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564		probably null	Het
Slc7a1	A	C	5: 148,333,964	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436	D194E	probably benign	Het

Other mutations in Fam217a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Fam217a	APN	13	34915649	splice site	probably benign
IGL02222:Fam217a	APN	13	34911119	missense	probably damaging	1.00
IGL02302:Fam217a	APN	13	34911161	missense	probably damaging	1.00
IGL02371:Fam217a	APN	13	34911401	missense	possibly damaging	0.53
IGL02538:Fam217a	APN	13	34911113	missense	probably damaging	0.98
R0324:Fam217a	UTSW	13	34910961	missense	possibly damaging	0.71
R0616:Fam217a	UTSW	13	34913683	missense	probably benign	0.03
R1497:Fam217a	UTSW	13	34911212	missense	probably damaging	0.97
R1934:Fam217a	UTSW	13	34910881	missense	probably damaging	1.00
R1981:Fam217a	UTSW	13	34916754	missense	probably benign	0.07
R2133:Fam217a	UTSW	13	34913680	missense	probably damaging	1.00
R2344:Fam217a	UTSW	13	34910335	missense	probably damaging	1.00
R4182:Fam217a	UTSW	13	34910256	missense	possibly damaging	0.75
R4601:Fam217a	UTSW	13	34911302	missense	probably damaging	1.00
R4909:Fam217a	UTSW	13	34910406	missense	probably damaging	1.00
R5583:Fam217a	UTSW	13	34910297	missense	probably damaging	1.00
R6496:Fam217a	UTSW	13	34910802	nonsense	probably null
R7166:Fam217a	UTSW	13	34910315	missense	probably benign	0.07
R7394:Fam217a	UTSW	13	34910279	missense	possibly damaging	0.73
R7710:Fam217a	UTSW	13	34911128	missense	possibly damaging	0.92
R8409:Fam217a	UTSW	13	34916898	missense	probably benign
R8716:Fam217a	UTSW	13	34924265	start gained	probably benign
R8782:Fam217a	UTSW	13	34911050	missense	probably benign
R8936:Fam217a	UTSW	13	34911164	missense	probably damaging	1.00
R9036:Fam217a	UTSW	13	34911024	missense	possibly damaging	0.93
R9333:Fam217a	UTSW	13	34916893	missense	probably benign	0.00
R9347:Fam217a	UTSW	13	34910679	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGCCATTGAAAACATGGAGC -3'
(R):5'- TTCAAATACAGAAACAGCAGTGTGG -3'

Sequencing Primer
(F):5'- GCTATAGAAAGTGCTTTGCAGCC -3'
(R):5'- CAGCAGTGTGGAAGAAAATGTCAC -3'

Posted On

2017-06-26