Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Fndc3a'

155820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc3a

Ensembl Gene

ENSMUSG00000033487

Gene Name

fibronectin type III domain containing 3A

Synonyms

1700094E19Rik, Fndc3, D14Ertd453e, F730017H24Rik, sys

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.696) question?

Stock #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

72537946-72710003 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72566141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 525 (Y525H)

Ref Sequence

ENSEMBL: ENSMUSP00000124637 (fasta)

Gene Model

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

AlphaFold

Q8BX90

Predicted Effect

probably benign
Transcript: ENSMUST00000089017
AA Change: Y525H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: Y525H

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: ENSMUST00000162478
AA Change: Y525H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: Y525H

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

unknown
Transcript: ENSMUST00000162825
AA Change: Y480H

SMART Domains

Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: Y480H

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,417,359	Y10*	probably null	Het
Aass	C	A	6: 23,107,634	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657	D333G	probably damaging	Het
Cap2	A	G	13: 46,639,949		probably benign	Het
Col27a1	G	T	4: 63,225,631	A519S	probably benign	Het
Cr2	A	G	1: 195,159,595	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,480,845		probably benign	Het
Dennd4c	A	G	4: 86,799,551	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,393,449	R340L	probably damaging	Het
Espl1	A	G	15: 102,298,205	T35A	probably benign	Het
Gm4922	T	C	10: 18,784,047	Q309R	probably benign	Het
Gm5263	T	C	1: 146,420,554		noncoding transcript	Het
Gm6563	A	C	19: 23,676,387	R180S	probably damaging	Het
Gpr182	C	A	10: 127,750,864	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,315,773	R179H	probably damaging	Het
Hk1	C	T	10: 62,353,105	A10T	probably benign	Het
Hmgn3	C	A	9: 83,110,384		probably benign	Het
Il1b	C	T	2: 129,369,729	E24K	probably damaging	Het
Itgb6	G	T	2: 60,627,985	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,545,558	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,866,469	T234A	possibly damaging	Het
Muc6	A	T	7: 141,651,062	Y270N	probably damaging	Het
Naip6	A	G	13: 100,288,095		probably benign	Het
Olfr142	A	T	2: 90,252,132	Y285*	probably null	Het
Pear1	G	A	3: 87,752,301	T742I	probably damaging	Het
Peli2	G	A	14: 48,256,034	V238I	probably benign	Het
Pira2	A	G	7: 3,844,612	L26P	probably damaging	Het
Pot1b	A	G	17: 55,662,521	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,347,927	Y295C	probably benign	Het
Ptprd	A	T	4: 76,140,507		probably benign	Het
Rap1gap	A	T	4: 137,716,155	M145L	probably benign	Het
Setd7	A	T	3: 51,532,967		probably benign	Het
Ssx2ip	T	C	3: 146,428,010	I258T	probably benign	Het
Stard9	T	C	2: 120,699,084	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,800,152	E420G	probably benign	Het
Tpra1	T	C	6: 88,909,342	V101A	probably damaging	Het
Tpx2	G	T	2: 152,884,235	Q373H	probably damaging	Het
Ttn	C	T	2: 76,727,008	R29914Q	probably damaging	Het
Ubr3	T	C	2: 70,003,465		probably null	Het
Usp18	G	A	6: 121,253,771	G53D	probably damaging	Het
Vps13c	A	T	9: 67,955,780	H3026L	probably benign	Het
Zan	T	C	5: 137,463,626	E1097G	unknown	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
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
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

Posted On

2014-02-04