Mutagenetix > Incidental Mutation

Incidental Mutation 'R2097:Fndc3a'

230334

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

040101-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R2097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72537946-72710003 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 72574351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089017] [ENSMUST00000161550] [ENSMUST00000162478]

AlphaFold

Q8BX90

Predicted Effect

probably null
Transcript: ENSMUST00000089017

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487

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

noncoding transcript
Transcript: ENSMUST00000161550

SMART Domains

Protein: ENSMUSP00000125489
Gene: ENSMUSG00000033487

Domain	Start	End	E-Value	Type
low complexity region	82	98	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162478

SMART Domains

Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487

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
Pfam:fn3	468	540	1.9e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162825

SMART Domains

Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487

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

0.9492

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,181,964	R29*	probably null	Het
Actr8	T	C	14: 29,987,228	V263A	probably damaging	Het
Apol6	T	A	15: 77,047,133		probably null	Het
Aqp3	C	T	4: 41,098,004	V36M	possibly damaging	Het
Bace1	G	T	9: 45,860,222	C478F	probably benign	Het
Bbof1	C	A	12: 84,413,307	A116D	probably damaging	Het
Casq1	A	T	1: 172,210,421	L381Q	probably damaging	Het
Ccdc138	T	A	10: 58,561,937	L533*	probably null	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cntn6	A	G	6: 104,861,949	E988G	probably damaging	Het
Cts6	T	A	13: 61,195,445	N321Y	probably damaging	Het
Dnmt1	A	G	9: 20,909,788	S1269P	probably benign	Het
Dsg4	C	A	18: 20,471,044	P856H	probably damaging	Het
Galc	T	C	12: 98,252,032	D187G	probably benign	Het
Gfm1	T	C	3: 67,449,746	I384T	probably damaging	Het
Hacd2	A	G	16: 35,048,720	I92V	probably benign	Het
Hmcn2	T	A	2: 31,380,419	Y1223N	probably damaging	Het
Il20ra	T	C	10: 19,759,463	I484T	probably damaging	Het
Map7	G	T	10: 20,246,616	V143F	probably damaging	Het
Mcm3ap	T	C	10: 76,512,489	L1893P	probably damaging	Het
Msh6	A	G	17: 87,985,416	N533S	probably benign	Het
Nbea	T	C	3: 55,723,217	D2233G	probably damaging	Het
Nlrp6	A	T	7: 140,923,204	T408S	probably damaging	Het
Notch3	A	T	17: 32,122,754	L2008Q	probably damaging	Het
Olfr1051	A	T	2: 86,276,039	Y149*	probably null	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pggt1b	T	C	18: 46,246,628	N296D	probably benign	Het
Pglyrp3	T	A	3: 92,028,171	F243I	possibly damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	T	A	13: 48,592,659		probably null	Het
Ptprq	T	C	10: 107,653,493	T924A	probably benign	Het
Pwp2	C	A	10: 78,177,742		probably benign	Het
Slc7a4	G	T	16: 17,573,455		probably null	Het
Tmem132b	T	A	5: 125,638,208	I327K	probably damaging	Het
Trim9	T	C	12: 70,347,159	M4V	probably damaging	Het
Tspan13	T	C	12: 36,021,830	S128G	probably benign	Het
Ttc25	T	A	11: 100,563,582	F398I	possibly damaging	Het
Zbtb20	A	G	16: 43,609,519	D131G	probably null	Het
Zeb2	A	T	2: 44,997,156	C615S	probably damaging	Het
Zfp777	C	T	6: 48,044,242	D149N	probably benign	Het
Zfp990	A	G	4: 145,537,322	K297E	possibly 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
R2396:Fndc3a	UTSW	14	72683683	missense	possibly damaging	0.92
R2512:Fndc3a	UTSW	14	72556275	missense	probably benign	0.00
R3722:Fndc3a	UTSW	14	72540208	missense	probably benign	0.39
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
R8799:Fndc3a	UTSW	14	72556515	missense	probably benign	0.00
R8955:Fndc3a	UTSW	14	72556970	missense	probably benign
R9019:Fndc3a	UTSW	14	72574400	missense	probably benign	0.01
R9120:Fndc3a	UTSW	14	72564693	missense	probably benign
R9155:Fndc3a	UTSW	14	72683722	missense	possibly damaging	0.50
R9281:Fndc3a	UTSW	14	72561657	missense	probably benign	0.00
R9512:Fndc3a	UTSW	14	72589984	missense	probably damaging	1.00
R9742:Fndc3a	UTSW	14	72540253	nonsense	probably null
R9744:Fndc3a	UTSW	14	72540253	nonsense	probably null
Z1176:Fndc3a	UTSW	14	72567373	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGACAGGGTAATTAGCTCTTTCC -3'
(R):5'- ACAGCTGTACCAGAGCTCTTC -3'

Sequencing Primer
(F):5'- AGGGTAATTAGCTCTTTCCCTTACTG -3'
(R):5'- GATAAAGGGCTTATTGCCA -3'

Posted On

2014-09-18