Mutagenetix > Incidental Mutations

Incidental Mutation 'R5865:Fam171a1'

454105

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

044074-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3225337 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 377 (D377E)

Ref Sequence

ENSEMBL: ENSMUSP00000072724 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062934
AA Change: D497E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: D497E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000072955
AA Change: D377E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: D377E

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: D502E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: D502E

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: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,712,128	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,803,954	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,266,836	I419T	probably benign	Het
Ccbe1	A	T	18: 66,083,151	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,293,368	T207A	probably benign	Het
Cd300lf	G	A	11: 115,126,300	L66F	probably damaging	Het
Cenpk	A	G	13: 104,236,194	*92W	probably null	Het
Col12a1	A	T	9: 79,604,478	S2950R	probably benign	Het
Dnah3	T	C	7: 119,975,108	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,621,135		probably benign	Het
Elac2	G	T	11: 64,997,957	C532F	probably benign	Het
Haus6	A	G	4: 86,586,357	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,575,176	S297P	probably benign	Het
Itgb4	C	T	11: 115,990,922	R766W	probably damaging	Het
Kank4	T	C	4: 98,771,393	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,458,199		probably null	Het
Kif21b	C	T	1: 136,151,137	R408*	probably null	Het
Lrrc31	A	G	3: 30,679,140	V475A	probably benign	Het
Map2k1	C	T	9: 64,191,266		probably null	Het
Mc3r	T	A	2: 172,249,672	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,304,217	S326P	possibly damaging	Het
Muc6	T	A	7: 141,650,504	I358F	probably damaging	Het
Myo5c	A	G	9: 75,297,488	D1541G	probably damaging	Het
Myof	T	C	19: 37,910,934	S1793G	probably damaging	Het
Nfkb1	T	A	3: 135,603,780	T518S	probably damaging	Het
Nphs1	T	A	7: 30,474,385	I989N	probably damaging	Het
Olfr1024	T	C	2: 85,904,521	T178A	probably benign	Het
Pcdha5	T	C	18: 36,961,421	F328L	probably benign	Het
Pclo	T	A	5: 14,714,478	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375	N52S	probably damaging	Het
Phf10	A	C	17: 14,955,010		probably benign	Het
Psme4	T	C	11: 30,791,993	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,471,563		probably benign	Het
Rufy4	A	T	1: 74,146,755	Y527F	probably damaging	Het
Snx32	T	C	19: 5,496,354	M293V	probably benign	Het
Sorl1	A	T	9: 41,983,034	L1827M	possibly damaging	Het
Sstr5	T	A	17: 25,491,244	D337V	probably benign	Het
Tcaf3	A	G	6: 42,596,697	F194L	probably benign	Het
Tcerg1	T	A	18: 42,536,348	W459R	probably damaging	Het
Tet2	T	A	3: 133,487,099	I525L	probably benign	Het
Tmem55b	A	G	14: 50,928,875		probably benign	Het
Trim43b	C	T	9: 89,085,606	V325I	probably benign	Het
Txndc11	A	T	16: 11,122,688	I180K	probably damaging	Het
Vmn1r193	A	G	13: 22,219,225	L199P	probably damaging	Het
Vmn2r110	A	G	17: 20,584,295	M121T	probably benign	Het
Zfhx4	G	C	3: 5,402,659	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,853,487	S463N	probably benign	Het
Zwilch	T	A	9: 64,172,908		probably null	Het

Other mutations in Fam171a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Fam171a1	APN	2	3178290	missense	possibly damaging	0.90
IGL01138:Fam171a1	APN	2	3202620	missense	possibly damaging	0.80
IGL01317:Fam171a1	APN	2	3202626	missense	probably damaging	1.00
IGL02377:Fam171a1	APN	2	3223586	critical splice donor site	probably null
IGL02475:Fam171a1	APN	2	3223490	missense	possibly damaging	0.53
IGL02477:Fam171a1	APN	2	3202575	missense	possibly damaging	0.83
ghosted	UTSW	2	3225152	nonsense	probably null
R0167:Fam171a1	UTSW	2	3186432	missense	probably damaging	1.00
R0426:Fam171a1	UTSW	2	3225396	missense	probably benign
R0468:Fam171a1	UTSW	2	3225396	missense	probably benign
R0811:Fam171a1	UTSW	2	3197427	missense	probably damaging	1.00
R0812:Fam171a1	UTSW	2	3197427	missense	probably damaging	1.00
R1099:Fam171a1	UTSW	2	3225317	missense	probably benign	0.24
R1694:Fam171a1	UTSW	2	3225623	missense	probably benign	0.00
R1817:Fam171a1	UTSW	2	3178373	missense	probably benign	0.04
R1869:Fam171a1	UTSW	2	3226152	missense	possibly damaging	0.53
R1887:Fam171a1	UTSW	2	3220343	missense	probably damaging	1.00
R2173:Fam171a1	UTSW	2	3225619	nonsense	probably null
R2355:Fam171a1	UTSW	2	3225533	nonsense	probably null
R3690:Fam171a1	UTSW	2	3226356	missense	probably benign
R3723:Fam171a1	UTSW	2	3220375	splice site	probably benign
R3978:Fam171a1	UTSW	2	3225035	missense	probably benign
R4087:Fam171a1	UTSW	2	3226296	missense	probably damaging	0.97
R4647:Fam171a1	UTSW	2	3220291	missense	probably damaging	0.98
R4744:Fam171a1	UTSW	2	3224909	missense	probably damaging	1.00
R4777:Fam171a1	UTSW	2	3223513	missense	probably benign	0.03
R4786:Fam171a1	UTSW	2	3225578	missense	probably damaging	1.00
R4888:Fam171a1	UTSW	2	3223509	missense	probably damaging	0.98
R4982:Fam171a1	UTSW	2	3178468	splice site	probably null
R5137:Fam171a1	UTSW	2	3225389	missense	probably benign	0.01
R5203:Fam171a1	UTSW	2	3223545	missense	probably damaging	0.99
R5233:Fam171a1	UTSW	2	3178353	missense	probably damaging	1.00
R5304:Fam171a1	UTSW	2	3225617	missense	probably damaging	1.00
R5475:Fam171a1	UTSW	2	3225297	missense	possibly damaging	0.91
R5682:Fam171a1	UTSW	2	3226089	missense	probably damaging	1.00
R6322:Fam171a1	UTSW	2	3226355	missense	probably benign	0.24
R7082:Fam171a1	UTSW	2	3223475	missense	probably benign	0.00
R7141:Fam171a1	UTSW	2	3225152	nonsense	probably null
R7155:Fam171a1	UTSW	2	3225729	missense	probably benign	0.10
R7243:Fam171a1	UTSW	2	3118616	missense	probably benign	0.07
R7326:Fam171a1	UTSW	2	3226472	nonsense	probably null
R7477:Fam171a1	UTSW	2	3225639	missense	probably benign	0.03
R7574:Fam171a1	UTSW	2	3220354	missense	probably damaging	1.00
R7745:Fam171a1	UTSW	2	3225446	missense	possibly damaging	0.53
R7753:Fam171a1	UTSW	2	3178317	missense	probably damaging	0.98
R7871:Fam171a1	UTSW	2	3225384	missense	probably benign	0.12
R7958:Fam171a1	UTSW	2	3178261	missense	probably damaging	1.00
X0019:Fam171a1	UTSW	2	3225593	missense	probably benign	0.19
Z1177:Fam171a1	UTSW	2	3224934	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGCTGTCCCACAAAGAAGAGG -3'
(R):5'- ACTACAGCAGATCAACTGGC -3'

Sequencing Primer
(F):5'- GAGGATAAAAGCCAAACATCTTTTG -3'
(R):5'- AGCAGATCAACTGGCCTGGC -3'

Posted On

2017-02-10