Mutagenetix > Incidental Mutation

Incidental Mutation 'R4838:Fam171a2'

371560

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R4838 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

102327807-102338508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102329511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 416 (R416L)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

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

AlphaFold

A2A699

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049057
AA Change: R416L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: R416L

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: ENSMUST00000148580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145190

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,944,523 (GRCm39)	V386A	probably benign	Het
Adk	G	A	14: 21,419,154 (GRCm39)	A247T	probably damaging	Het
Ankrd27	T	A	7: 35,291,231 (GRCm39)	L9Q	possibly damaging	Het
Atad2	A	G	15: 57,966,679 (GRCm39)	L638P	probably damaging	Het
Atf7ip	T	A	6: 136,573,489 (GRCm39)	D1009E	probably benign	Het
Bend7	A	T	2: 4,749,133 (GRCm39)	K83N	probably damaging	Het
Bicc1	C	T	10: 70,781,146 (GRCm39)	D562N	possibly damaging	Het
Calcrl	T	A	2: 84,181,549 (GRCm39)	N200Y	probably damaging	Het
Ccdc125	C	A	13: 100,814,453 (GRCm39)	A11E	possibly damaging	Het
Cd5l	A	G	3: 87,273,258 (GRCm39)	T76A	probably benign	Het
Cdhr5	A	T	7: 140,853,644 (GRCm39)	I2N	probably damaging	Het
Cdk10	C	T	8: 123,957,353 (GRCm39)	A230V	probably damaging	Het
Cep128	T	C	12: 90,966,319 (GRCm39)		probably benign	Het
Cep131	T	C	11: 119,966,982 (GRCm39)	N186D	probably damaging	Het
Cfhr4	T	A	1: 139,661,181 (GRCm39)	D556V	probably damaging	Het
Cog7	G	T	7: 121,570,604 (GRCm39)	P168Q	probably damaging	Het
Col28a1	T	A	6: 8,014,559 (GRCm39)	M949L	probably benign	Het
Coq8b	T	A	7: 26,950,016 (GRCm39)	M365K	probably damaging	Het
Cpa1	A	G	6: 30,639,515 (GRCm39)	E18G	possibly damaging	Het
Csmd2	A	G	4: 128,411,542 (GRCm39)	H2520R	probably benign	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dpm1	G	A	2: 168,052,456 (GRCm39)	T260I	probably damaging	Het
Dtx3	A	T	10: 127,027,176 (GRCm39)		probably null	Het
Eepd1	T	C	9: 25,500,756 (GRCm39)	V401A	possibly damaging	Het
Ehhadh	A	G	16: 21,581,952 (GRCm39)	S347P	possibly damaging	Het
Elp3	A	G	14: 65,785,313 (GRCm39)		probably null	Het
Enam	C	T	5: 88,640,967 (GRCm39)	Q210*	probably null	Het
Epha1	C	T	6: 42,340,750 (GRCm39)	R607H	probably benign	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
F830045P16Rik	A	G	2: 129,302,470 (GRCm39)	V374A	possibly damaging	Het
Fbn1	T	C	2: 125,214,319 (GRCm39)	N764S	probably benign	Het
Fip1l1	C	T	5: 74,752,600 (GRCm39)	T469I	probably damaging	Het
Flad1	G	A	3: 89,313,217 (GRCm39)	R342C	probably damaging	Het
Fzd3	A	G	14: 65,477,269 (GRCm39)	V95A	probably benign	Het
Garem1	T	C	18: 21,280,950 (GRCm39)	T469A	probably benign	Het
Gm17093	A	G	14: 44,755,805 (GRCm39)	Y24C	unknown	Het
Grap2	T	C	15: 80,522,762 (GRCm39)	V96A	possibly damaging	Het
Greb1	A	T	12: 16,734,361 (GRCm39)		probably null	Het
Grid2ip	A	T	5: 143,374,530 (GRCm39)	K913*	probably null	Het
Gzmk	T	C	13: 113,309,555 (GRCm39)	D126G	probably damaging	Het
Hibch	A	G	1: 52,924,337 (GRCm39)	I171V	possibly damaging	Het
Hipk2	G	T	6: 38,795,339 (GRCm39)	T310K	possibly damaging	Het
Hk3	T	C	13: 55,154,231 (GRCm39)	Y815C	probably damaging	Het
Hps5	A	T	7: 46,437,778 (GRCm39)	V99E	probably damaging	Het
Hspg2	A	G	4: 137,268,977 (GRCm39)	H2203R	possibly damaging	Het
Il12rb2	A	G	6: 67,286,121 (GRCm39)	V108A	probably damaging	Het
Il6st	C	T	13: 112,627,044 (GRCm39)	R279*	probably null	Het
Kdm2a	A	C	19: 4,375,054 (GRCm39)	S692R	probably benign	Het
Kif13a	T	C	13: 46,980,224 (GRCm39)	K176R	probably damaging	Het
Kif5b	T	C	18: 6,216,869 (GRCm39)	K485E	probably damaging	Het
Ktn1	C	T	14: 47,963,413 (GRCm39)	R1111*	probably null	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Mad1l1	G	A	5: 140,286,017 (GRCm39)	Q293*	probably null	Het
Man1b1	A	T	2: 25,235,487 (GRCm39)	I338F	possibly damaging	Het
Marchf1	G	T	8: 66,921,015 (GRCm39)	V225L	probably damaging	Het
Matcap2	A	T	9: 22,335,673 (GRCm39)	D97V	probably damaging	Het
Mrpl3	A	G	9: 104,934,231 (GRCm39)	D118G	probably damaging	Het
Nomo1	A	T	7: 45,733,139 (GRCm39)	Q1209L	unknown	Het
Nrcam	A	G	12: 44,620,802 (GRCm39)	E949G	probably damaging	Het
Olfm5	T	G	7: 103,803,572 (GRCm39)	N297T	probably damaging	Het
Or51h7	T	A	7: 102,591,453 (GRCm39)	L110F	probably damaging	Het
Pcdh7	A	T	5: 57,878,146 (GRCm39)	N567I	probably damaging	Het
Pkn1	A	G	8: 84,404,595 (GRCm39)	L495P	probably damaging	Het
Pkp1	T	C	1: 135,810,326 (GRCm39)	S415G	probably damaging	Het
Pou2f1	T	A	1: 165,744,492 (GRCm39)	Q53L	probably null	Het
Pramel26	G	A	4: 143,537,375 (GRCm39)	Q319*	probably null	Het
Prkce	A	G	17: 86,937,511 (GRCm39)	K648R	probably benign	Het
Ptprh	G	A	7: 4,576,429 (GRCm39)	T277I	possibly damaging	Het
Rpl31	C	T	1: 39,410,048 (GRCm39)	R83C	probably benign	Het
Rpusd3	G	A	6: 113,393,837 (GRCm39)	Q194*	probably null	Het
Sgsm1	T	A	5: 113,430,492 (GRCm39)	N298Y	probably damaging	Het
She	G	A	3: 89,758,946 (GRCm39)	G355D	probably benign	Het
Shld2	A	G	14: 33,990,582 (GRCm39)	V108A	probably benign	Het
Snx11	C	T	11: 96,665,284 (GRCm39)	E9K	possibly damaging	Het
Soat1	C	A	1: 156,260,507 (GRCm39)	A444S	probably benign	Het
Sox6	T	C	7: 115,085,897 (GRCm39)	Y690C	probably damaging	Het
Spata13	T	A	14: 60,970,628 (GRCm39)	F10I	probably benign	Het
St18	C	A	1: 6,873,129 (GRCm39)	T288K	probably benign	Het
Tifa	C	T	3: 127,590,235 (GRCm39)	S2F	probably damaging	Het
Tmem232	A	T	17: 65,737,883 (GRCm39)	S392R	probably benign	Het
Tmtc3	T	C	10: 100,302,082 (GRCm39)	N289S	probably damaging	Het
Tpo	A	G	12: 30,142,633 (GRCm39)	F697S	probably damaging	Het
Trp53	A	G	11: 69,478,456 (GRCm39)	T122A	probably damaging	Het
Trps1	A	C	15: 50,690,712 (GRCm39)	I10S	probably benign	Het
Tubgcp5	C	T	7: 55,443,933 (GRCm39)		probably benign	Het
Unc13c	T	G	9: 73,839,354 (GRCm39)	Y499S	possibly damaging	Het
Unc45a	C	A	7: 79,982,783 (GRCm39)	D381Y	probably damaging	Het
Upf1	G	C	8: 70,792,018 (GRCm39)	H402Q	probably benign	Het
Uroc1	A	T	6: 90,326,174 (GRCm39)	I510F	possibly damaging	Het
Usp15	A	G	10: 122,963,662 (GRCm39)	F589L	probably damaging	Het
Vmn2r76	T	C	7: 85,874,733 (GRCm39)	Y748C	probably damaging	Het
Wwp1	T	C	4: 19,662,143 (GRCm39)	N151D	probably benign	Het
Zbtb40	A	T	4: 136,728,527 (GRCm39)	S439T	probably benign	Het
Zbtb6	A	T	2: 37,318,728 (GRCm39)	L400*	probably null	Het
Zfp125	C	T	12: 20,949,961 (GRCm39)		noncoding transcript	Het
Zmynd8	A	C	2: 165,681,954 (GRCm39)	Y183*	probably null	Het
Zpld2	A	G	4: 133,920,410 (GRCm39)	V585A	probably benign	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102,328,674 (GRCm39)	missense	possibly damaging	0.92
IGL01898:Fam171a2	APN	11	102,330,582 (GRCm39)	missense	possibly damaging	0.88
IGL02477:Fam171a2	APN	11	102,330,854 (GRCm39)	missense	probably benign	0.00
IGL03272:Fam171a2	APN	11	102,334,944 (GRCm39)	missense	possibly damaging	0.58
R0102:Fam171a2	UTSW	11	102,334,939 (GRCm39)	missense	possibly damaging	0.88
R0102:Fam171a2	UTSW	11	102,334,939 (GRCm39)	missense	possibly damaging	0.88
R0632:Fam171a2	UTSW	11	102,328,707 (GRCm39)	missense	probably damaging	0.99
R0733:Fam171a2	UTSW	11	102,330,548 (GRCm39)	missense	possibly damaging	0.83
R1005:Fam171a2	UTSW	11	102,331,007 (GRCm39)	missense	probably benign	0.05
R1323:Fam171a2	UTSW	11	102,334,951 (GRCm39)	missense	probably damaging	0.99
R1323:Fam171a2	UTSW	11	102,334,951 (GRCm39)	missense	probably damaging	0.99
R2425:Fam171a2	UTSW	11	102,329,187 (GRCm39)	missense	possibly damaging	0.88
R4858:Fam171a2	UTSW	11	102,330,982 (GRCm39)	missense	probably damaging	1.00
R5119:Fam171a2	UTSW	11	102,329,559 (GRCm39)	missense	probably damaging	0.97
R5384:Fam171a2	UTSW	11	102,328,693 (GRCm39)	missense	possibly damaging	0.51
R5386:Fam171a2	UTSW	11	102,328,693 (GRCm39)	missense	possibly damaging	0.51
R5408:Fam171a2	UTSW	11	102,328,344 (GRCm39)	missense	possibly damaging	0.71
R5457:Fam171a2	UTSW	11	102,328,362 (GRCm39)	missense	possibly damaging	0.92
R5732:Fam171a2	UTSW	11	102,330,807 (GRCm39)	missense	possibly damaging	0.94
R6466:Fam171a2	UTSW	11	102,330,711 (GRCm39)	missense	probably damaging	1.00
R6931:Fam171a2	UTSW	11	102,329,260 (GRCm39)	missense	possibly damaging	0.95
R7196:Fam171a2	UTSW	11	102,329,172 (GRCm39)	missense	probably benign	0.04
R7261:Fam171a2	UTSW	11	102,328,900 (GRCm39)	missense	probably damaging	0.98
R7295:Fam171a2	UTSW	11	102,329,064 (GRCm39)	missense	possibly damaging	0.85
R7419:Fam171a2	UTSW	11	102,329,628 (GRCm39)	missense	possibly damaging	0.95
R7422:Fam171a2	UTSW	11	102,329,491 (GRCm39)	missense	probably benign	0.29
R7454:Fam171a2	UTSW	11	102,330,543 (GRCm39)	missense	possibly damaging	0.88
R7606:Fam171a2	UTSW	11	102,335,002 (GRCm39)	missense	possibly damaging	0.75
R7690:Fam171a2	UTSW	11	102,328,660 (GRCm39)	missense	probably benign	0.04
R7754:Fam171a2	UTSW	11	102,329,389 (GRCm39)	missense	probably benign	0.00
R7970:Fam171a2	UTSW	11	102,328,692 (GRCm39)	missense	possibly damaging	0.93
R8060:Fam171a2	UTSW	11	102,329,436 (GRCm39)	missense	possibly damaging	0.88
R8338:Fam171a2	UTSW	11	102,329,172 (GRCm39)	missense	probably benign	0.10
R8924:Fam171a2	UTSW	11	102,330,861 (GRCm39)	missense	possibly damaging	0.94
R8976:Fam171a2	UTSW	11	102,329,451 (GRCm39)	missense	possibly damaging	0.46
R9116:Fam171a2	UTSW	11	102,330,519 (GRCm39)	missense	probably damaging	0.98
R9155:Fam171a2	UTSW	11	102,329,497 (GRCm39)	missense	probably benign	0.28
R9346:Fam171a2	UTSW	11	102,328,771 (GRCm39)	missense	possibly damaging	0.87
Z1176:Fam171a2	UTSW	11	102,338,272 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCCTTGTGGCCCAGATAATG -3'
(R):5'- AAGACGCTGCTTGAAGCCTAG -3'

Sequencing Primer
(F):5'- CCAGATAATGGTCGAAGGATGGC -3'
(R):5'- GCTGCTTGAAGCCTAGACAACAG -3'

Posted On

2016-03-01