Mutagenetix > Incidental Mutation

Incidental Mutation 'R9016:Fam171a1'

685974

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

068846-MU

Accession Numbers

Essential gene?

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

Stock #

R9016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3226397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 856 (A856T)

Ref Sequence

ENSEMBL: ENSMUSP00000110751 (fasta)

Gene Model

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

AlphaFold

A2ATK9

Predicted Effect

probably benign
Transcript: ENSMUST00000062934
AA Change: A851T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: A851T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072955
AA Change: A731T

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: A731T

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000115099
AA Change: A856T

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: A856T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	C	A	18: 74,799,083 (GRCm38)	S264R	probably damaging	Het
Agap1	T	C	1: 89,766,466 (GRCm38)		probably null	Het
Amer2	G	C	14: 60,379,927 (GRCm38)	D524H	probably damaging	Het
Ank1	G	A	8: 23,116,248 (GRCm38)	G1219S	probably null	Het
Apob	C	T	12: 7,985,408 (GRCm38)		silent	Het
Atg2a	G	C	19: 6,250,081 (GRCm38)	A640P	probably damaging	Het
AW209491	G	A	13: 14,637,608 (GRCm38)	V349M	probably damaging	Het
Bmpr2	C	T	1: 59,815,301 (GRCm38)	T103I	probably damaging	Het
Btaf1	A	C	19: 36,994,305 (GRCm38)	E1231D	probably benign	Het
Btbd7	T	C	12: 102,785,158 (GRCm38)	R1116G	probably damaging	Het
Catsperg1	A	T	7: 29,191,737 (GRCm38)	M627K	probably benign	Het
Ccdc114	T	G	7: 45,936,564 (GRCm38)	C128W	probably damaging	Het
Cdk7	G	A	13: 100,717,618 (GRCm38)	T121I	probably benign	Het
Csmd3	T	A	15: 47,659,042 (GRCm38)	T1833S		Het
Dapk3	A	T	10: 81,192,432 (GRCm38)	R279W	probably damaging	Het
Dnah9	T	C	11: 66,108,030 (GRCm38)	E1064G	probably damaging	Het
Dner	T	C	1: 84,695,505 (GRCm38)	E75G	probably benign	Het
Dnmt1	T	C	9: 20,936,559 (GRCm38)	E229G	possibly damaging	Het
Fam186b	G	A	15: 99,279,735 (GRCm38)	A570V	probably damaging	Het
Fen1	A	T	19: 10,200,942 (GRCm38)	V46D	probably damaging	Het
Ffar3	T	C	7: 30,855,029 (GRCm38)	R289G	probably damaging	Het
Fhod3	G	A	18: 25,110,079 (GRCm38)	E1165K	possibly damaging	Het
Fras1	A	T	5: 96,636,064 (GRCm38)	H809L	probably damaging	Het
Gbp7	A	T	3: 142,544,109 (GRCm38)	E447V	probably benign	Het
Gja8	T	C	3: 96,920,205 (GRCm38)	D47G	probably damaging	Het
Gm13089	T	C	4: 143,697,329 (GRCm38)	I297V	possibly damaging	Het
Gm5795	A	G	14: 3,191,110 (GRCm38)	K144E	probably benign	Het
Gm7298	A	C	6: 121,781,841 (GRCm38)	Q1139H	possibly damaging	Het
Gpa33	A	T	1: 166,165,161 (GRCm38)	Y281F	probably damaging	Het
H2-M10.5	G	A	17: 36,773,334 (GRCm38)	E63K	possibly damaging	Het
Hgf	T	C	5: 16,618,958 (GRCm38)	W718R	probably damaging	Het
Ifna5	C	G	4: 88,835,809 (GRCm38)	D95E	probably benign	Het
Ifnar2	T	C	16: 91,404,185 (GRCm38)	L438P	possibly damaging	Het
Ints1	T	C	5: 139,758,571 (GRCm38)	T1479A	probably benign	Het
Kif1a	C	T	1: 93,025,673 (GRCm38)	R1263H	probably damaging	Het
Ltbp2	T	C	12: 84,809,693 (GRCm38)	T686A	probably benign	Het
Med12l	A	T	3: 59,255,873 (GRCm38)	E1307V	probably damaging	Het
Mtcl1	T	A	17: 66,344,067 (GRCm38)	T1468S	probably damaging	Het
Myo9a	C	T	9: 59,868,144 (GRCm38)	Q1013*	probably null	Het
Nckap5	T	C	1: 126,695,754 (GRCm38)	M1V	probably null	Het
Nos3	G	T	5: 24,383,641 (GRCm38)	V1122F	probably damaging	Het
Nxt2	C	T	X: 142,237,751 (GRCm38)	A118V	possibly damaging	Het
Olfr1375	G	A	11: 51,048,111 (GRCm38)	M1I	probably null	Het
Olfr658	A	T	7: 104,644,621 (GRCm38)	C250*	probably null	Het
Oscar	A	G	7: 3,616,073 (GRCm38)	V2A	probably benign	Het
P2rx6	T	A	16: 17,567,440 (GRCm38)	H132Q	possibly damaging	Het
Pakap	T	C	4: 57,637,857 (GRCm38)	C12R	unknown	Het
Pde6b	T	A	5: 108,388,726 (GRCm38)	M96K	possibly damaging	Het
Polq	T	A	16: 37,022,797 (GRCm38)	L231Q	probably damaging	Het
Prrc2a	G	A	17: 35,159,868 (GRCm38)	T399I	unknown	Het
Rapsn	A	G	2: 91,036,827 (GRCm38)	D158G	probably damaging	Het
Rcor1	T	A	12: 111,081,499 (GRCm38)		probably benign	Het
Sema4d	G	T	13: 51,713,758 (GRCm38)	P186T	probably damaging	Het
Skiv2l	A	C	17: 34,844,664 (GRCm38)	L601R	probably damaging	Het
Slc4a7	G	A	14: 14,773,241 (GRCm38)	R737Q	probably damaging	Het
Sorbs2	T	G	8: 45,795,737 (GRCm38)	V675G	probably benign	Het
Sox15	T	G	11: 69,655,703 (GRCm38)	Y111D	probably damaging	Het
Spen	C	T	4: 141,473,627 (GRCm38)	C2563Y	probably damaging	Het
St5	A	C	7: 109,540,435 (GRCm38)	D645E	possibly damaging	Het
Taf8	A	T	17: 47,496,602 (GRCm38)	D153E	probably damaging	Het
Tet3	G	A	6: 83,368,271 (GRCm38)	A1728V	probably damaging	Het
Tmem232	A	T	17: 65,430,783 (GRCm38)	D427E	probably benign	Het
Tmem53	T	C	4: 117,268,254 (GRCm38)	I188T	probably benign	Het
Tnc	T	G	4: 64,017,094 (GRCm38)	D535A	probably benign	Het
Tnfrsf11a	G	A	1: 105,827,129 (GRCm38)	A309T	possibly damaging	Het
Tnik	G	A	3: 28,638,395 (GRCm38)	G867R	probably damaging	Het
Uba3	A	T	6: 97,185,733 (GRCm38)	C367*	probably null	Het
Vmn1r235	G	T	17: 21,261,707 (GRCm38)	S98I	possibly damaging	Het
Vmn2r15	T	C	5: 109,294,243 (GRCm38)	E108G	probably benign	Het
Xrra1	T	A	7: 99,876,255 (GRCm38)	I127N	probably benign	Het
Zc3h18	G	A	8: 122,403,224 (GRCm38)	R447Q	unknown	Het
Zcwpw1	C	A	5: 137,800,078 (GRCm38)	P179Q	probably damaging	Het
Zfp526	C	T	7: 25,225,839 (GRCm38)	H508Y	probably damaging	Het
Zfp583	T	C	7: 6,317,405 (GRCm38)	K203E	probably benign	Het
Zfp979	A	G	4: 147,613,047 (GRCm38)	C402R	possibly damaging	Het
Zxdc	A	G	6: 90,382,272 (GRCm38)	T629A	probably damaging	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
R4982:Fam171a1	UTSW	2	3,178,468 (GRCm38)	splice site	probably null
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
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'- AGCTCCTGTACCTTGAGGAC -3'
(R):5'- TTCTCCACACGCAGGTATG -3'

Sequencing Primer
(F):5'- TCCTGTACCTTGAGGACATGGAC -3'
(R):5'- GCACTTCCATGAGAAAGGATATTTGG -3'

Posted On

2021-10-11