Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Fndc3a'

170993

Institutional Source

Beutler Lab

Gene Symbol

Fndc3a

Ensembl Gene

ENSMUSG00000033487

Gene Name

fibronectin type III domain containing 3A

Synonyms

sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72775386-72947443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72806384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 373 (C373F)

Gene Model

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

AlphaFold

Q8BX90

Predicted Effect

probably benign
Transcript: ENSMUST00000089017
AA Change: C418F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: C418F

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: C418F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: C418F

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 damaging
Transcript: ENSMUST00000162825
AA Change: C373F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: C373F

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

0.0746

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	Het

Other mutations in Fndc3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Fndc3a	APN	14	72,796,797 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCACTTTCTATTTGCATCAAGCACCAC -3'
(R):5'- GGCCAGAAATTTAGCACTGACTGAAAC -3'

Sequencing Primer
(F):5'- aaacaaacaaacaaacaaacaaacaC -3'
(R):5'- AAGATGTTCAGTGTCTCAGCC -3'

Posted On

2014-04-13