Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Fndc3a'

695335

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.639) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72537946-72710003 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72683722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 4 (H4L)

Ref Sequence

ENSEMBL: ENSMUSP00000086411 (fasta)

Gene Model

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

AlphaFold

Q8BX90

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089017
AA Change: H4L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: H4L

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

possibly damaging
Transcript: ENSMUST00000162478
AA Change: H4L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: H4L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,543,945	E34G	probably damaging	Het
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Aldh1a3	A	T	7: 66,409,119	L157*	probably null	Het
Asic2	T	A	11: 80,894,046	T356S	probably benign	Het
Ate1	T	C	7: 130,394,733	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,459,597	Q474L		Het
Carf	C	A	1: 60,150,683	T689K	possibly damaging	Het
Carmil2	A	G	8: 105,686,290	D6G	probably benign	Het
Ccnd2	A	C	6: 127,150,700	V25G	probably damaging	Het
Ccnk	T	A	12: 108,193,719	F153L	probably damaging	Het
Cdh23	C	T	10: 60,413,706	G808E	probably damaging	Het
Clec11a	C	T	7: 44,304,893	R212Q	probably damaging	Het
Cog4	T	C	8: 110,881,752	W749R	probably damaging	Het
Col6a3	T	A	1: 90,810,579	T1073S	probably benign	Het
Col6a4	T	A	9: 106,075,010	D563V	probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crebbp	A	C	16: 4,096,482	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,585,655	G2737W		Het
Ddrgk1	T	C	2: 130,658,307	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,066,796	Q589R	probably benign	Het
Dnah10	A	G	5: 124,830,411	D4336G	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,870	Q140L	possibly damaging	Het
Ergic3	A	G	2: 156,008,860	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,438,671	S421T	probably benign	Het
Fam26f	T	C	10: 34,126,367	E240G	probably damaging	Het
Gid8	T	A	2: 180,717,963	Y213*	probably null	Het
Gm9573	G	A	17: 35,621,239	P685L	unknown	Het
Hephl1	G	T	9: 15,089,079	H292Q	probably damaging	Het
Hexb	T	C	13: 97,177,906	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,926,425	R168H	probably benign	Het
Hus1	A	G	11: 9,006,056	I159T	probably damaging	Het
Inha	A	G	1: 75,509,489	T143A	probably benign	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Itgae	G	T	11: 73,125,263	C766F	possibly damaging	Het
Kank4	T	C	4: 98,778,326	E628G	probably benign	Het
Kctd19	T	C	8: 105,393,939	H221R	probably benign	Het
Llgl1	A	G	11: 60,707,108	E351G	probably benign	Het
Lrba	A	G	3: 86,295,201	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,461,369	R3489*	probably null	Het
Lrriq1	T	C	10: 103,214,779	N704S	probably benign	Het
Mbtps1	T	C	8: 119,508,954	N995S	probably benign	Het
Mga	T	C	2: 119,926,532	C1077R	probably damaging	Het
Ndufv1	A	T	19: 4,009,912	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,192,211	L226P	probably damaging	Het
Nsd1	C	T	13: 55,213,440	R74W	probably damaging	Het
Olfr136	A	T	17: 38,335,333	M59L	probably damaging	Het
Olfr1451	G	A	19: 12,999,064	C26Y	probably benign	Het
Olfr361	A	C	2: 37,085,004	M248R	probably benign	Het
Olfr412	A	G	11: 74,364,965	T99A	probably benign	Het
Olfr855	A	T	9: 19,585,083	D182V	probably benign	Het
Phc3	A	G	3: 30,914,542	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppp4c	A	T	7: 126,787,247	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,494,285	P308T	probably damaging	Het
Rhot1	A	G	11: 80,257,554	T607A	probably null	Het
Secisbp2l	G	A	2: 125,775,703	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,811,282	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,774,690	Y36H	probably damaging	Het
Sox17	T	C	1: 4,492,224	Y251C	probably damaging	Het
Taf4b	T	C	18: 14,813,239	V373A	probably benign	Het
Tecpr2	T	A	12: 110,914,750	V107E	probably damaging	Het
Them7	A	G	2: 105,378,779	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Ttn	C	T	2: 76,795,593	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,924,134	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,012,173	R309*	probably null	Het
Vmn2r10	A	T	5: 108,996,346	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,610,207	Q435R	probably null	Het
Vmn2r50	A	T	7: 10,047,644	H391Q	probably damaging	Het
Zbtb44	A	T	9: 31,054,013	I240F	probably benign	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
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
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'- CTGGTTATTCAATAGCAAAGACAGC -3'
(R):5'- ACCTTGGTTGGGTTGTATGAAATAC -3'

Sequencing Primer
(F):5'- AAGACAGCAGCCCTTTAGG -3'
(R):5'- TGGGTTGTATGAAATACATTTTCCC -3'

Posted On

2022-01-20