Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Fam171a1'

191984

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

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

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3225623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 473 (S473G)

Ref Sequence

ENSEMBL: ENSMUSP00000072724 (fasta)

Gene Model

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

AlphaFold

A2ATK9

Predicted Effect

probably benign
Transcript: ENSMUST00000062934
AA Change: S593G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: S593G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072955
AA Change: S473G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: S473G

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: S598G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: S598G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,778,628 (GRCm38)		probably benign	Het
4930447C04Rik	C	T	12: 72,885,218 (GRCm38)		probably null	Het
Abca16	A	G	7: 120,520,084 (GRCm38)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,930,008 (GRCm38)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,801,320 (GRCm38)	T341A	probably damaging	Het
Agbl5	A	G	5: 30,893,382 (GRCm38)	Y458C	probably damaging	Het
Akap5	C	T	12: 76,329,924 (GRCm38)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,575,178 (GRCm38)	E36G	probably damaging	Het
Arhgap44	A	G	11: 65,053,197 (GRCm38)	S163P	probably damaging	Het
Armc1	A	G	3: 19,134,886 (GRCm38)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm38)	L102P	probably damaging	Het
Brca1	T	C	11: 101,532,099 (GRCm38)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,841,600 (GRCm38)	R58G	probably damaging	Het
C1qbp	G	T	11: 70,978,247 (GRCm38)		probably null	Het
Calcrl	A	T	2: 84,339,287 (GRCm38)	L350H	probably damaging	Het
Casr	A	T	16: 36,495,591 (GRCm38)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,781,066 (GRCm38)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm38)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,690,663 (GRCm38)		probably null	Het
Comtd1	A	G	14: 21,847,330 (GRCm38)	V183A	probably damaging	Het
Crygs	A	T	16: 22,806,675 (GRCm38)		probably null	Het
Dact1	C	A	12: 71,312,777 (GRCm38)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm38)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,954,824 (GRCm38)	S627*	probably null	Het
Dnajc11	T	A	4: 151,979,273 (GRCm38)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,563 (GRCm38)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,328,374 (GRCm38)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,746,539 (GRCm38)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,221,745 (GRCm38)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,190,065 (GRCm38)		probably null	Het
Fbxl2	A	T	9: 114,003,171 (GRCm38)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,922,672 (GRCm38)	M272V	probably benign	Het
Gm1000	T	C	12: 104,476,600 (GRCm38)		probably benign	Het
Gm765	A	C	6: 98,238,139 (GRCm38)	S174R	probably damaging	Het
Grik1	T	A	16: 87,950,068 (GRCm38)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,744,592 (GRCm38)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,804,062 (GRCm38)	T430P	probably benign	Het
Lats1	T	C	10: 7,701,945 (GRCm38)	S278P	probably benign	Het
Lrch4	A	G	5: 137,638,461 (GRCm38)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,225,285 (GRCm38)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,661,161 (GRCm38)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844 (GRCm38)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,883,165 (GRCm38)	R82L	probably benign	Het
Mlh1	A	G	9: 111,228,475 (GRCm38)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,267,141 (GRCm38)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,227,511 (GRCm38)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,613,193 (GRCm38)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,327,387 (GRCm38)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,808,012 (GRCm38)	T324I	probably benign	Het
Neo1	A	T	9: 58,880,603 (GRCm38)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,216,855 (GRCm38)		probably null	Het
Nup210	A	C	6: 91,062,803 (GRCm38)	I690S	probably benign	Het
Olfr235	T	A	19: 12,268,917 (GRCm38)	I229N	probably damaging	Het
Olfr543	A	T	7: 102,477,340 (GRCm38)	S177T	probably benign	Het
Olfr824	T	A	10: 130,126,254 (GRCm38)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,733,710 (GRCm38)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,594,163 (GRCm38)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,520,963 (GRCm38)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,147,648 (GRCm38)	I107L	probably benign	Het
Pde6c	A	G	19: 38,180,225 (GRCm38)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,977,719 (GRCm38)		probably benign	Het
Pi4ka	A	T	16: 17,295,376 (GRCm38)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,441,084 (GRCm38)		probably null	Het
Plb1	A	G	5: 32,317,277 (GRCm38)	N661S	probably null	Het
Plekhd1	A	G	12: 80,722,321 (GRCm38)	K452E	possibly damaging	Het
Prr12	C	A	7: 45,028,579 (GRCm38)	V2003F	unknown	Het
Ptger1	G	A	8: 83,668,478 (GRCm38)	G195R	probably benign	Het
Ptpn4	T	C	1: 119,783,510 (GRCm38)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,804,676 (GRCm38)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm38)		probably null	Het
Rtn1	T	C	12: 72,223,524 (GRCm38)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,613,120 (GRCm38)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857 (GRCm38)		probably benign	Het
Scimp	G	T	11: 70,793,792 (GRCm38)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,955,528 (GRCm38)	S132*	probably null	Het
Set	A	G	2: 30,069,424 (GRCm38)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,019,395 (GRCm38)	E12Q	possibly damaging	Het
Sgce	A	G	6: 4,689,709 (GRCm38)	S375P	probably damaging	Het
Slc4a1ap	G	C	5: 31,543,754 (GRCm38)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,637,592 (GRCm38)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,207,480 (GRCm38)	V153A	probably benign	Het
Src	A	G	2: 157,469,755 (GRCm38)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,873,225 (GRCm38)		probably benign	Het
Stk11ip	C	T	1: 75,527,386 (GRCm38)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,614,625 (GRCm38)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 156,065,285 (GRCm38)	I446L	probably benign	Het
Trmt11	T	C	10: 30,535,225 (GRCm38)	H424R	probably benign	Het
Urb1	A	G	16: 90,767,040 (GRCm38)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,688,483 (GRCm38)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,374,363 (GRCm38)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148 (GRCm38)	S315P	probably benign	Het
Xpo1	A	G	11: 23,281,399 (GRCm38)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,319,096 (GRCm38)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,073,944 (GRCm38)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,325,720 (GRCm38)	P54S	probably benign	Het
Zfp560	C	A	9: 20,347,986 (GRCm38)	G527*	probably null	Het
Zfp775	A	G	6: 48,619,455 (GRCm38)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,964,383 (GRCm38)	H249L	possibly 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
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
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'- CCGCAGACCGACTGAATGTATGATG -3'
(R):5'- TGCAGGGATAGACAGTGACTCTGAC -3'

Sequencing Primer
(F):5'- GATGTCACGATCTGTCGATCAC -3'
(R):5'- TGACTCTGACATGGATGCAC -3'

Posted On

2014-05-14