Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Fam171a1'

384885

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 3178468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062934] [ENSMUST00000072955] [ENSMUST00000091505] [ENSMUST00000115099]

AlphaFold

A2ATK9

Predicted Effect

probably null
Transcript: ENSMUST00000062934

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530

Domain	Start	End	E-Value	Type
Pfam:UPF0560	29	885	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000072955

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530

Domain	Start	End	E-Value	Type
Pfam:UPF0560	1	765	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091505

SMART Domains

Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:UPF0560	34	294	3.1e-146	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115099

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:UPF0560	34	890	N/A	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348 (GRCm38)	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230 (GRCm38)	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343 (GRCm38)	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,932,208 (GRCm38)		probably null	Het
Bbs2	A	G	8: 94,082,354 (GRCm38)		probably null	Het
Bcl11b	A	T	12: 107,965,772 (GRCm38)	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473 (GRCm38)	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352 (GRCm38)	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241 (GRCm38)	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571 (GRCm38)	I196N	probably damaging	Het
Chsy3	T	A	18: 59,409,767 (GRCm38)	I659N	possibly damaging	Het
Chsy3	C	T	18: 59,409,575 (GRCm38)	S595L	probably benign	Het
Cntrob	T	A	11: 69,311,362 (GRCm38)		probably null	Het
Col5a2	G	A	1: 45,389,458 (GRCm38)	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136 (GRCm38)		probably null	Het
Ctnnbl1	C	T	2: 157,836,553 (GRCm38)	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387 (GRCm38)	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602 (GRCm38)	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564 (GRCm38)	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Homo
Fam222b	T	C	11: 78,154,743 (GRCm38)	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651 (GRCm38)		probably benign	Het
Fes	T	C	7: 80,387,204 (GRCm38)	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999 (GRCm38)	V51A	probably benign	Het
Gpr75	C	T	11: 30,891,463 (GRCm38)	L123F	possibly damaging	Het
Gpr75	C	A	11: 30,891,462 (GRCm38)	H122Q	probably damaging	Het
Greb1	A	G	12: 16,724,761 (GRCm38)	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512 (GRCm38)	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624 (GRCm38)	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994 (GRCm38)	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667 (GRCm38)	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059 (GRCm38)	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189 (GRCm38)	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954 (GRCm38)	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129 (GRCm38)	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789 (GRCm38)	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327 (GRCm38)	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332 (GRCm38)	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456 (GRCm38)		probably benign	Het
Mybbp1a	T	C	11: 72,445,214 (GRCm38)	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767 (GRCm38)	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577 (GRCm38)	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515 (GRCm38)	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397 (GRCm38)		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648 (GRCm38)	Y197*	probably null	Het
Os9	C	T	10: 127,121,051 (GRCm38)	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607 (GRCm38)	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423 (GRCm38)	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294 (GRCm38)		probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm38)		probably benign	Het
Phtf1	T	A	3: 103,998,708 (GRCm38)	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996 (GRCm38)	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298 (GRCm38)	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688 (GRCm38)	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606 (GRCm38)	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754 (GRCm38)	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874 (GRCm38)	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234 (GRCm38)	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425 (GRCm38)	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943 (GRCm38)	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096 (GRCm38)	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074 (GRCm38)	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020 (GRCm38)	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815 (GRCm38)	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504 (GRCm38)	*310W	probably null	Het
Tsks	C	T	7: 44,943,994 (GRCm38)	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606 (GRCm38)	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069 (GRCm38)	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865 (GRCm38)	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465 (GRCm38)	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667 (GRCm38)		probably null	Het

Other mutations in Fam171a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Fam171a1	APN	2	3,178,290 (GRCm38)	missense	possibly damaging	0.90
IGL01138:Fam171a1	APN	2	3,202,620 (GRCm38)	missense	possibly damaging	0.80
IGL01317:Fam171a1	APN	2	3,202,626 (GRCm38)	missense	probably damaging	1.00
IGL02377:Fam171a1	APN	2	3,223,586 (GRCm38)	critical splice donor site	probably null
IGL02475:Fam171a1	APN	2	3,223,490 (GRCm38)	missense	possibly damaging	0.53
IGL02477:Fam171a1	APN	2	3,202,575 (GRCm38)	missense	possibly damaging	0.83
ghosted	UTSW	2	3,225,152 (GRCm38)	nonsense	probably null
R0167:Fam171a1	UTSW	2	3,186,432 (GRCm38)	missense	probably damaging	1.00
R0426:Fam171a1	UTSW	2	3,225,396 (GRCm38)	missense	probably benign
R0468:Fam171a1	UTSW	2	3,225,396 (GRCm38)	missense	probably benign
R0811:Fam171a1	UTSW	2	3,197,427 (GRCm38)	missense	probably damaging	1.00
R0812:Fam171a1	UTSW	2	3,197,427 (GRCm38)	missense	probably damaging	1.00
R1099:Fam171a1	UTSW	2	3,225,317 (GRCm38)	missense	probably benign	0.24
R1694:Fam171a1	UTSW	2	3,225,623 (GRCm38)	missense	probably benign	0.00
R1817:Fam171a1	UTSW	2	3,178,373 (GRCm38)	missense	probably benign	0.04
R1869:Fam171a1	UTSW	2	3,226,152 (GRCm38)	missense	possibly damaging	0.53
R1887:Fam171a1	UTSW	2	3,220,343 (GRCm38)	missense	probably damaging	1.00
R2173:Fam171a1	UTSW	2	3,225,619 (GRCm38)	nonsense	probably null
R2355:Fam171a1	UTSW	2	3,225,533 (GRCm38)	nonsense	probably null
R3690:Fam171a1	UTSW	2	3,226,356 (GRCm38)	missense	probably benign
R3723:Fam171a1	UTSW	2	3,220,375 (GRCm38)	splice site	probably benign
R3978:Fam171a1	UTSW	2	3,225,035 (GRCm38)	missense	probably benign
R4087:Fam171a1	UTSW	2	3,226,296 (GRCm38)	missense	probably damaging	0.97
R4647:Fam171a1	UTSW	2	3,220,291 (GRCm38)	missense	probably damaging	0.98
R4744:Fam171a1	UTSW	2	3,224,909 (GRCm38)	missense	probably damaging	1.00
R4777:Fam171a1	UTSW	2	3,223,513 (GRCm38)	missense	probably benign	0.03
R4786:Fam171a1	UTSW	2	3,225,578 (GRCm38)	missense	probably damaging	1.00
R4888:Fam171a1	UTSW	2	3,223,509 (GRCm38)	missense	probably damaging	0.98
R5137:Fam171a1	UTSW	2	3,225,389 (GRCm38)	missense	probably benign	0.01
R5203:Fam171a1	UTSW	2	3,223,545 (GRCm38)	missense	probably damaging	0.99
R5233:Fam171a1	UTSW	2	3,178,353 (GRCm38)	missense	probably damaging	1.00
R5304:Fam171a1	UTSW	2	3,225,617 (GRCm38)	missense	probably damaging	1.00
R5475:Fam171a1	UTSW	2	3,225,297 (GRCm38)	missense	possibly damaging	0.91
R5682:Fam171a1	UTSW	2	3,226,089 (GRCm38)	missense	probably damaging	1.00
R5865:Fam171a1	UTSW	2	3,225,337 (GRCm38)	missense	probably benign	0.01
R6322:Fam171a1	UTSW	2	3,226,355 (GRCm38)	missense	probably benign	0.24
R7082:Fam171a1	UTSW	2	3,223,475 (GRCm38)	missense	probably benign	0.00
R7141:Fam171a1	UTSW	2	3,225,152 (GRCm38)	nonsense	probably null
R7155:Fam171a1	UTSW	2	3,225,729 (GRCm38)	missense	probably benign	0.10
R7243:Fam171a1	UTSW	2	3,118,616 (GRCm38)	missense	probably benign	0.07
R7326:Fam171a1	UTSW	2	3,226,472 (GRCm38)	nonsense	probably null
R7477:Fam171a1	UTSW	2	3,225,639 (GRCm38)	missense	probably benign	0.03
R7574:Fam171a1	UTSW	2	3,220,354 (GRCm38)	missense	probably damaging	1.00
R7745:Fam171a1	UTSW	2	3,225,446 (GRCm38)	missense	possibly damaging	0.53
R7753:Fam171a1	UTSW	2	3,178,317 (GRCm38)	missense	probably damaging	0.98
R7871:Fam171a1	UTSW	2	3,225,384 (GRCm38)	missense	probably benign	0.12
R7958:Fam171a1	UTSW	2	3,178,261 (GRCm38)	missense	probably damaging	1.00
R8677:Fam171a1	UTSW	2	3,220,315 (GRCm38)	missense	probably damaging	0.98
R8793:Fam171a1	UTSW	2	3,186,498 (GRCm38)	missense	probably damaging	1.00
R8850:Fam171a1	UTSW	2	3,220,307 (GRCm38)	missense	probably damaging	1.00
R8865:Fam171a1	UTSW	2	3,225,903 (GRCm38)	missense	probably damaging	1.00
R9016:Fam171a1	UTSW	2	3,226,397 (GRCm38)	missense	probably benign	0.43
R9090:Fam171a1	UTSW	2	3,223,506 (GRCm38)	missense	probably damaging	1.00
R9251:Fam171a1	UTSW	2	3,225,488 (GRCm38)	missense	probably benign	0.06
R9271:Fam171a1	UTSW	2	3,223,506 (GRCm38)	missense	probably damaging	1.00
R9350:Fam171a1	UTSW	2	3,225,000 (GRCm38)	missense	probably benign	0.12
X0019:Fam171a1	UTSW	2	3,225,593 (GRCm38)	missense	probably benign	0.19
Z1177:Fam171a1	UTSW	2	3,224,934 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCGCTCATTGAGATCTTCGC -3'
(R):5'- AGAACTGAGCACCTGTGACCTC -3'

Sequencing Primer
(F):5'- ATTGAGATCTTCGCCAGCCAG -3'
(R):5'- AGCACCTGTGACCTCTGTGTG -3'

Posted On

2016-05-10