Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Fam171a2'

218788

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R0632 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

102436981-102447682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102437881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 684 (D684V)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]

AlphaFold

A2A699

Predicted Effect

probably damaging
Transcript: ENSMUST00000049057
AA Change: D684V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: D684V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPF0560	41	820	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049460

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
GRAN	74	125	1.32e-22	SMART
GRAN	138	190	7.38e-26	SMART
GRAN	220	272	5.76e-28	SMART
GRAN	295	346	1.19e-29	SMART
GRAN	377	427	1.84e-26	SMART
GRAN	455	506	7.1e-28	SMART
GRAN	530	581	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123500

Predicted Effect

probably benign
Transcript: ENSMUST00000125819

SMART Domains

Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	42	72	5.03e-4	SMART
GRAN	100	151	7.1e-28	SMART
GRAN	175	226	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127530

Predicted Effect

probably benign
Transcript: ENSMUST00000129997

SMART Domains

Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GRAN	61	112	1.32e-22	SMART
GRAN	125	177	7.38e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176953

Predicted Effect

probably benign
Transcript: ENSMUST00000177428

SMART Domains

Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	1	49	8.68e-23	SMART
GRAN	77	128	7.1e-28	SMART
GRAN	152	180	3.98e-2	SMART
low complexity region	244	259	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC

Meta Mutation Damage Score

0.5432

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102437848	missense	possibly damaging	0.92
IGL01898:Fam171a2	APN	11	102439756	missense	possibly damaging	0.88
IGL02477:Fam171a2	APN	11	102440028	missense	probably benign	0.00
IGL03272:Fam171a2	APN	11	102444118	missense	possibly damaging	0.58
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0733:Fam171a2	UTSW	11	102439722	missense	possibly damaging	0.83
R1005:Fam171a2	UTSW	11	102440181	missense	probably benign	0.05
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R2425:Fam171a2	UTSW	11	102438361	missense	possibly damaging	0.88
R4838:Fam171a2	UTSW	11	102438685	missense	possibly damaging	0.88
R4858:Fam171a2	UTSW	11	102440156	missense	probably damaging	1.00
R5119:Fam171a2	UTSW	11	102438733	missense	probably damaging	0.97
R5384:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5386:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5408:Fam171a2	UTSW	11	102437518	missense	possibly damaging	0.71
R5457:Fam171a2	UTSW	11	102437536	missense	possibly damaging	0.92
R5732:Fam171a2	UTSW	11	102439981	missense	possibly damaging	0.94
R6466:Fam171a2	UTSW	11	102439885	missense	probably damaging	1.00
R6931:Fam171a2	UTSW	11	102438434	missense	possibly damaging	0.95
R7196:Fam171a2	UTSW	11	102438346	missense	probably benign	0.04
R7261:Fam171a2	UTSW	11	102438074	missense	probably damaging	0.98
R7295:Fam171a2	UTSW	11	102438238	missense	possibly damaging	0.85
R7419:Fam171a2	UTSW	11	102438802	missense	possibly damaging	0.95
R7422:Fam171a2	UTSW	11	102438665	missense	probably benign	0.29
R7454:Fam171a2	UTSW	11	102439717	missense	possibly damaging	0.88
R7606:Fam171a2	UTSW	11	102444176	missense	possibly damaging	0.75
R7690:Fam171a2	UTSW	11	102437834	missense	probably benign	0.04
R7754:Fam171a2	UTSW	11	102438563	missense	probably benign	0.00
R7970:Fam171a2	UTSW	11	102437866	missense	possibly damaging	0.93
R8060:Fam171a2	UTSW	11	102438610	missense	possibly damaging	0.88
R8338:Fam171a2	UTSW	11	102438346	missense	probably benign	0.10
R8924:Fam171a2	UTSW	11	102440035	missense	possibly damaging	0.94
R8976:Fam171a2	UTSW	11	102438625	missense	possibly damaging	0.46
R9116:Fam171a2	UTSW	11	102439693	missense	probably damaging	0.98
R9155:Fam171a2	UTSW	11	102438671	missense	probably benign	0.28
R9346:Fam171a2	UTSW	11	102437945	missense	possibly damaging	0.87
Z1176:Fam171a2	UTSW	11	102447446	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACGTTGAACACCATTAGCGGC -3'
(R):5'- TGCAGGCTCTAACCGAGAAGAAGC -3'

Sequencing Primer
(F):5'- GTTAGCGAGTTGTCCTCCG -3'
(R):5'- TCTAACCGAGAAGAAGCTGCTG -3'

Posted On

2014-08-21