Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Fndc3a'

277791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc3a

Ensembl Gene

ENSMUSG00000033487

Gene Name

fibronectin type III domain containing 3A

Synonyms

sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

72775386-72947443 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 72796797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BX90

Predicted Effect

probably benign
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: ENSMUST00000159144

Predicted Effect

probably benign
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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,222,596 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Clstn2	A	G	9: 97,464,505 (GRCm39)		probably benign	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gzmk	C	T	13: 113,309,658 (GRCm39)	V92I	probably benign	Het
Mprip	C	T	11: 59,643,443 (GRCm39)	R520W	probably damaging	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sbno1	A	G	5: 124,540,268 (GRCm39)	S383P	probably damaging	Het
Slc22a29	T	A	19: 8,138,993 (GRCm39)	T490S	probably benign	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Smim23	T	C	11: 32,771,893 (GRCm39)	T58A	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,366 (GRCm39)	D5G	probably benign	Het

Other mutations in Fndc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Fndc3a	APN	14	72,794,102 (GRCm39)	missense	probably benign	0.05
IGL01577:Fndc3a	APN	14	72,827,298 (GRCm39)	missense	probably damaging	0.99
IGL01810:Fndc3a	APN	14	72,803,581 (GRCm39)	missense	probably benign	0.01
IGL01965:Fndc3a	APN	14	72,777,842 (GRCm39)	missense	probably benign	0.09
IGL01992:Fndc3a	APN	14	72,811,996 (GRCm39)	missense	probably benign	0.25
IGL02244:Fndc3a	APN	14	72,793,807 (GRCm39)	splice site	probably benign
IGL02639:Fndc3a	APN	14	72,811,797 (GRCm39)	missense	probably benign	0.08
IGL03076:Fndc3a	APN	14	72,793,908 (GRCm39)	missense	possibly damaging	0.82
IGL03096:Fndc3a	APN	14	72,836,559 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Fndc3a	UTSW	14	72,812,035 (GRCm39)	missense	probably benign	0.02
R0112:Fndc3a	UTSW	14	72,777,935 (GRCm39)	splice site	probably benign
R0379:Fndc3a	UTSW	14	72,794,049 (GRCm39)	missense	probably damaging	1.00
R0381:Fndc3a	UTSW	14	72,794,067 (GRCm39)	missense	probably benign	0.05
R0544:Fndc3a	UTSW	14	72,795,062 (GRCm39)	splice site	probably benign
R1079:Fndc3a	UTSW	14	72,827,247 (GRCm39)	missense	possibly damaging	0.81
R1299:Fndc3a	UTSW	14	72,803,638 (GRCm39)	splice site	probably benign
R1424:Fndc3a	UTSW	14	72,811,811 (GRCm39)	missense	probably damaging	1.00
R1453:Fndc3a	UTSW	14	72,777,768 (GRCm39)	nonsense	probably null
R1478:Fndc3a	UTSW	14	72,795,072 (GRCm39)	critical splice donor site	probably null
R1573:Fndc3a	UTSW	14	72,806,384 (GRCm39)	missense	probably damaging	0.98
R1574:Fndc3a	UTSW	14	72,793,997 (GRCm39)	missense	probably damaging	1.00
R1574:Fndc3a	UTSW	14	72,793,997 (GRCm39)	missense	probably damaging	1.00
R1743:Fndc3a	UTSW	14	72,889,521 (GRCm39)	missense	probably damaging	1.00
R1852:Fndc3a	UTSW	14	72,794,283 (GRCm39)	missense	probably damaging	0.96
R2097:Fndc3a	UTSW	14	72,811,791 (GRCm39)	critical splice donor site	probably null
R2396:Fndc3a	UTSW	14	72,921,123 (GRCm39)	missense	possibly damaging	0.92
R2512:Fndc3a	UTSW	14	72,793,715 (GRCm39)	missense	probably benign	0.00
R3722:Fndc3a	UTSW	14	72,777,648 (GRCm39)	missense	probably benign	0.39
R5470:Fndc3a	UTSW	14	72,812,008 (GRCm39)	missense	possibly damaging	0.83
R5757:Fndc3a	UTSW	14	72,794,025 (GRCm39)	missense	probably benign
R5931:Fndc3a	UTSW	14	72,806,307 (GRCm39)	missense	probably benign
R6188:Fndc3a	UTSW	14	72,827,401 (GRCm39)	missense	probably damaging	0.99
R6297:Fndc3a	UTSW	14	72,800,980 (GRCm39)	missense	probably damaging	0.98
R6638:Fndc3a	UTSW	14	72,796,688 (GRCm39)	nonsense	probably null
R7221:Fndc3a	UTSW	14	72,793,597 (GRCm39)	missense	probably benign
R7571:Fndc3a	UTSW	14	72,827,336 (GRCm39)	missense	probably damaging	0.99
R7677:Fndc3a	UTSW	14	72,804,854 (GRCm39)	missense	probably benign
R7744:Fndc3a	UTSW	14	72,799,156 (GRCm39)	missense	possibly damaging	0.95
R7849:Fndc3a	UTSW	14	72,802,100 (GRCm39)	missense	probably benign	0.01
R8027:Fndc3a	UTSW	14	72,790,983 (GRCm39)	missense	probably benign	0.04
R8152:Fndc3a	UTSW	14	72,811,820 (GRCm39)	missense	probably damaging	1.00
R8225:Fndc3a	UTSW	14	72,795,117 (GRCm39)	missense	probably benign	0.00
R8295:Fndc3a	UTSW	14	72,789,959 (GRCm39)	missense	probably benign	0.03
R8799:Fndc3a	UTSW	14	72,793,955 (GRCm39)	missense	probably benign	0.00
R8955:Fndc3a	UTSW	14	72,794,410 (GRCm39)	missense	probably benign
R9019:Fndc3a	UTSW	14	72,811,840 (GRCm39)	missense	probably benign	0.01
R9120:Fndc3a	UTSW	14	72,802,133 (GRCm39)	missense	probably benign
R9155:Fndc3a	UTSW	14	72,921,162 (GRCm39)	missense	possibly damaging	0.50
R9281:Fndc3a	UTSW	14	72,799,097 (GRCm39)	missense	probably benign	0.00
R9512:Fndc3a	UTSW	14	72,827,424 (GRCm39)	missense	probably damaging	1.00
R9742:Fndc3a	UTSW	14	72,777,693 (GRCm39)	nonsense	probably null
R9744:Fndc3a	UTSW	14	72,777,693 (GRCm39)	nonsense	probably null
Z1176:Fndc3a	UTSW	14	72,804,813 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16