Mutagenetix > Incidental Mutations

Incidental Mutation 'R3722:Fndc3a'

258988

Institutional Source

Beutler Lab

Gene Symbol

Fndc3a

Ensembl Gene

ENSMUSG00000033487

Gene Name

fibronectin type III domain containing 3A

Synonyms

1700094E19Rik, Fndc3, D14Ertd453e, F730017H24Rik, sys

MMRRC Submission

040713-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.584) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72537946-72710003 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72540208 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1186 (I1186F)

Ref Sequence

ENSEMBL: ENSMUSP00000086411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089017]

Predicted Effect

probably benign
Transcript: ENSMUST00000089017
AA Change: I1186F

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: I1186F

Domain	Start	End	E-Value	Type
low complexity region	120	136	N/A	INTRINSIC
low complexity region	202	216	N/A	INTRINSIC
low complexity region	228	244	N/A	INTRINSIC
FN3	266	358	3.05e-6	SMART
FN3	371	452	3.42e-9	SMART
FN3	467	549	1.84e-9	SMART
FN3	564	647	1.06e-5	SMART
FN3	662	744	2.19e-7	SMART
FN3	759	838	5.48e-8	SMART
FN3	864	937	2.28e-5	SMART
FN3	951	1032	3.22e-5	SMART
FN3	1047	1127	5.63e0	SMART
transmembrane domain	1175	1197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162825
AA Change: I1141F

SMART Domains

Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: I1141F

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	158	172	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC
FN3	222	314	3.05e-6	SMART
FN3	327	408	3.42e-9	SMART
FN3	423	505	1.84e-9	SMART
FN3	520	603	1.06e-5	SMART
FN3	618	700	2.19e-7	SMART
FN3	715	794	5.48e-8	SMART
FN3	820	893	2.28e-5	SMART
FN3	907	988	3.22e-5	SMART
FN3	1003	1083	5.63e0	SMART
transmembrane domain	1131	1153	N/A	INTRINSIC

Meta Mutation Damage Score

0.2091

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Males homozygous for an insertional mutation are sterile; females are fertile. In mutant males, spermatids form multinucleated syncytia and fail to mature, while Sertoli cells exhibit abnormal cytoplasmic vacuoles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,340,510	S1485T	probably benign	Het
Akap9	A	G	5: 4,070,351	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153	Y482H	probably damaging	Het
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,850,291	E1420G	probably damaging	Het
Asic3	A	T	5: 24,416,999	Y419F	probably benign	Het
Atg7	A	G	6: 114,695,663	Y279C	probably damaging	Het
Braf	G	A	6: 39,623,676	P616L	probably damaging	Het
Btnl2	T	C	17: 34,358,135	M88T	possibly damaging	Het
C1rb	T	A	6: 124,580,661	Y586N	probably damaging	Het
Cacna1s	T	C	1: 136,069,042	F127S	possibly damaging	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cox8b	T	A	7: 140,899,005	K66*	probably null	Het
Diras2	T	A	13: 52,508,023	I83F	probably damaging	Het
Dlg2	T	A	7: 91,711,800		probably null	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,397,488	L204P	probably damaging	Het
Fam170a	C	T	18: 50,282,204	P306S	probably benign	Het
Fam205a1	T	C	4: 42,851,472	E228G	probably benign	Het
Fbxl12	A	T	9: 20,638,972		probably null	Het
Gm12886	T	A	4: 121,417,470	D71V	probably damaging	Het
Hist1h3g	T	C	13: 23,535,552	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021		probably benign	Het
Ighv8-11	A	G	12: 115,567,151	I119T	possibly damaging	Het
Ism1	A	T	2: 139,732,011	R94*	probably null	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kcnk15	T	C	2: 163,858,294	L132P	probably damaging	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Mkl2	C	T	16: 13,385,693	A201V	probably damaging	Het
Ncstn	G	A	1: 172,067,895	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,549,505		probably null	Het
Olfr1248	A	T	2: 89,618,159	I11N	possibly damaging	Het
Olfr958	A	C	9: 39,550,122	C250G	probably damaging	Het
Omp	T	C	7: 98,145,213	N69S	probably benign	Het
Pak1	C	T	7: 97,854,497	P13L	probably damaging	Het
Pde4d	T	A	13: 109,951,332	C744*	probably null	Het
Pelp1	T	C	11: 70,398,200	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Ptprk	A	G	10: 28,383,623	D353G	probably damaging	Het
Ptprs	A	G	17: 56,417,485	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,196,917	A231S	probably benign	Het
Rpn1	G	A	6: 88,090,300		probably null	Het
Rreb1	T	A	13: 37,947,098	D1409E	probably benign	Het
Sipa1l2	G	A	8: 125,473,584	H668Y	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,208,124	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,342,977	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,335,533	R445*	probably null	Het
Snapc4	A	G	2: 26,365,428	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,368,275	T152I	possibly damaging	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Tex2	C	T	11: 106,546,740	W203*	probably null	Het
Tmcc1	T	C	6: 116,133,822	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Ttll6	A	G	11: 96,133,921	N46D	probably benign	Het
Txk	T	A	5: 72,707,735	K266*	probably null	Het
Uggt2	T	C	14: 119,041,518	E859G	probably damaging	Het
Uros	A	T	7: 133,702,391	M1K	probably null	Het
Vps13b	T	A	15: 35,671,382	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863		probably null	Het
Zfp760	A	G	17: 21,722,162	Y106C	probably damaging	Het

Other mutations in Fndc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Fndc3a	APN	14	72559357	splice site	probably benign
IGL01120:Fndc3a	APN	14	72556662	missense	probably benign	0.05
IGL01577:Fndc3a	APN	14	72589858	missense	probably damaging	0.99
IGL01810:Fndc3a	APN	14	72566141	missense	probably benign	0.01
IGL01965:Fndc3a	APN	14	72540402	missense	probably benign	0.09
IGL01992:Fndc3a	APN	14	72574556	missense	probably benign	0.25
IGL02244:Fndc3a	APN	14	72556367	splice site	probably benign
IGL02639:Fndc3a	APN	14	72574357	missense	probably benign	0.08
IGL03076:Fndc3a	APN	14	72556468	missense	possibly damaging	0.82
IGL03096:Fndc3a	APN	14	72599119	missense	probably damaging	1.00
PIT4677001:Fndc3a	UTSW	14	72574595	missense	probably benign	0.02
R0112:Fndc3a	UTSW	14	72540495	splice site	probably benign
R0379:Fndc3a	UTSW	14	72556609	missense	probably damaging	1.00
R0381:Fndc3a	UTSW	14	72556627	missense	probably benign	0.05
R0544:Fndc3a	UTSW	14	72557622	splice site	probably benign
R1079:Fndc3a	UTSW	14	72589807	missense	possibly damaging	0.81
R1299:Fndc3a	UTSW	14	72566198	splice site	probably benign
R1424:Fndc3a	UTSW	14	72574371	missense	probably damaging	1.00
R1453:Fndc3a	UTSW	14	72540328	nonsense	probably null
R1478:Fndc3a	UTSW	14	72557632	critical splice donor site	probably null
R1573:Fndc3a	UTSW	14	72568944	missense	probably damaging	0.98
R1574:Fndc3a	UTSW	14	72556557	missense	probably damaging	1.00
R1574:Fndc3a	UTSW	14	72556557	missense	probably damaging	1.00
R1743:Fndc3a	UTSW	14	72652081	missense	probably damaging	1.00
R1852:Fndc3a	UTSW	14	72556843	missense	probably damaging	0.96
R2097:Fndc3a	UTSW	14	72574351	critical splice donor site	probably null
R2396:Fndc3a	UTSW	14	72683683	missense	possibly damaging	0.92
R2512:Fndc3a	UTSW	14	72556275	missense	probably benign	0.00
R5470:Fndc3a	UTSW	14	72574568	missense	possibly damaging	0.83
R5757:Fndc3a	UTSW	14	72556585	missense	probably benign
R5931:Fndc3a	UTSW	14	72568867	missense	probably benign
R6188:Fndc3a	UTSW	14	72589961	missense	probably damaging	0.99
R6297:Fndc3a	UTSW	14	72563540	missense	probably damaging	0.98
R6638:Fndc3a	UTSW	14	72559248	nonsense	probably null
R7221:Fndc3a	UTSW	14	72556157	missense	probably benign
R7571:Fndc3a	UTSW	14	72589896	missense	probably damaging	0.99
R7677:Fndc3a	UTSW	14	72567414	missense	probably benign
R7744:Fndc3a	UTSW	14	72561716	missense	possibly damaging	0.95
R7849:Fndc3a	UTSW	14	72564660	missense	probably benign	0.01
R8027:Fndc3a	UTSW	14	72553543	missense	probably benign	0.04
R8152:Fndc3a	UTSW	14	72574380	missense	probably damaging	1.00
R8225:Fndc3a	UTSW	14	72557677	missense	probably benign	0.00
R8295:Fndc3a	UTSW	14	72552519	missense	probably benign	0.03
Z1176:Fndc3a	UTSW	14	72567373	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCTTTGCCTAACAACAGAAG -3'
(R):5'- GTGTGTGCCATTCGCCAATG -3'

Sequencing Primer
(F):5'- ACTGAAATGCCAAAGCCATGTTTC -3'
(R):5'- TGCCATTCGCCAATGCCAAG -3'

Posted On

2015-01-23