Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Fam171a1'

204469

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

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

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3178373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 79 (P79S)

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: P74S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: P74S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072955

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091505
AA Change: P79S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
AA Change: P79S

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: P79S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: P79S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,219,318 (GRCm38)	S600T	probably benign	Het
Acly	T	A	11: 100,495,891 (GRCm38)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,310,033 (GRCm38)	T387K	probably benign	Het
Afg3l1	G	T	8: 123,501,931 (GRCm38)	K745N	probably damaging	Het
Armc8	T	C	9: 99,536,259 (GRCm38)	T39A	possibly damaging	Het
Atm	C	A	9: 53,492,233 (GRCm38)		probably benign	Het
Babam2	A	G	5: 32,057,546 (GRCm38)	T324A	probably damaging	Het
Btd	C	A	14: 31,662,289 (GRCm38)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,829,370 (GRCm38)		probably benign	Het
Card11	A	T	5: 140,885,560 (GRCm38)	D729E	probably benign	Het
Ccni	G	T	5: 93,188,108 (GRCm38)	T144K	possibly damaging	Het
Cecr2	A	G	6: 120,731,267 (GRCm38)	T77A	probably damaging	Het
Cpsf7	T	C	19: 10,535,439 (GRCm38)	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,873,448 (GRCm38)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,414,062 (GRCm38)		probably benign	Het
Ddx20	A	T	3: 105,678,580 (GRCm38)	Y816*	probably null	Het
Ddx59	A	G	1: 136,432,507 (GRCm38)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,502,503 (GRCm38)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,400 (GRCm38)	L628*	probably null	Het
Dnah7a	A	C	1: 53,559,148 (GRCm38)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,927,126 (GRCm38)	T215A	probably benign	Het
Dsg4	C	T	18: 20,471,245 (GRCm38)	T923M	probably damaging	Het
Enox1	A	G	14: 77,615,475 (GRCm38)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,134,618 (GRCm38)	M183K	probably damaging	Het
Fga	A	G	3: 83,031,775 (GRCm38)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,415,889 (GRCm38)	A36S	probably benign	Het
Fnip1	A	G	11: 54,502,453 (GRCm38)	T572A	probably benign	Het
Fxn	A	C	19: 24,280,401 (GRCm38)		probably null	Het
Gaa	C	T	11: 119,284,498 (GRCm38)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,754,251 (GRCm38)	M344T	probably benign	Het
Galnt7	C	T	8: 57,538,178 (GRCm38)	V433M	probably damaging	Het
Gin1	A	G	1: 97,785,226 (GRCm38)		probably null	Het
Gm5155	C	T	7: 17,873,330 (GRCm38)		noncoding transcript	Het
Hydin	A	C	8: 110,532,827 (GRCm38)	D2477A	probably benign	Het
Igsf6	T	C	7: 121,070,808 (GRCm38)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,531,527 (GRCm38)	I210V	probably benign	Het
Kif3a	T	C	11: 53,598,734 (GRCm38)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,868,718 (GRCm38)		probably null	Het
Lcorl	A	T	5: 45,795,346 (GRCm38)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,602,776 (GRCm38)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,179,274 (GRCm38)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,954,437 (GRCm38)	Y261*	probably null	Het
Mb21d1	A	G	9: 78,434,311 (GRCm38)		probably null	Het
Mical3	T	G	6: 121,042,235 (GRCm38)	T9P	probably benign	Het
Mpp6	T	G	6: 50,163,431 (GRCm38)	F144V	probably benign	Het
Myrip	C	T	9: 120,388,162 (GRCm38)	S49L	probably damaging	Het
Nrap	T	C	19: 56,384,055 (GRCm38)		probably benign	Het
Olfr164	T	C	16: 19,285,877 (GRCm38)	N289D	probably damaging	Het
Olfr729	A	G	14: 50,148,271 (GRCm38)	V201A	probably benign	Het
Otoa	A	T	7: 121,160,530 (GRCm38)		probably benign	Het
Parp11	T	A	6: 127,490,045 (GRCm38)	I133N	probably damaging	Het
Pcnx	A	G	12: 81,918,642 (GRCm38)	T528A	probably benign	Het
Pde4c	A	G	8: 70,726,989 (GRCm38)	H63R	probably benign	Het
Pdpk1	T	C	17: 24,110,904 (GRCm38)	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,036,176 (GRCm38)	M468K	probably damaging	Het
Perm1	C	A	4: 156,218,604 (GRCm38)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,535,969 (GRCm38)	A265S	probably benign	Het
Pik3c2a	A	T	7: 116,376,512 (GRCm38)		probably null	Het
Plxnd1	T	C	6: 115,980,601 (GRCm38)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,206,969 (GRCm38)	D470E	probably benign	Het
Prf1	C	A	10: 61,302,983 (GRCm38)	T240N	probably damaging	Het
Prune2	A	G	19: 17,122,081 (GRCm38)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,223,265 (GRCm38)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,419,527 (GRCm38)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,686,256 (GRCm38)	V117A	probably damaging	Het
Rnf123	A	G	9: 108,062,926 (GRCm38)	V756A	probably benign	Het
Sez6l2	A	G	7: 126,967,119 (GRCm38)	E741G	probably damaging	Het
Shc3	A	T	13: 51,472,852 (GRCm38)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,008,058 (GRCm38)		probably benign	Het
Spef2	C	T	15: 9,584,108 (GRCm38)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,321,333 (GRCm38)	K85*	probably null	Het
Taf1b	T	G	12: 24,547,122 (GRCm38)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,067,703 (GRCm38)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,224,943 (GRCm38)	M478L	probably benign	Het
Tpr	A	T	1: 150,419,903 (GRCm38)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,495 (GRCm38)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm38)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,330,052 (GRCm38)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,472,373 (GRCm38)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,715,615 (GRCm38)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,642 (GRCm38)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,092,305 (GRCm38)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm38)	V539A	probably benign	Het
Zfp180	G	A	7: 24,105,227 (GRCm38)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,568,617 (GRCm38)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,883,120 (GRCm38)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,476,183 (GRCm38)	H517Y	probably damaging	Het
Zranb3	A	T	1: 128,017,556 (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
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'- AACATGTCCCATCTTTGGCC -3'
(R):5'- GAATTGGCATATAGATGTCCCTGC -3'

Sequencing Primer
(F):5'- CATCTTTGGCCTACTGTCAGGG -3'
(R):5'- GGCATATAGATGTCCCTGCCTGAC -3'

Posted On

2014-06-23