Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Fndc3a'

253499

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

040418-MU

Accession Numbers

Essential gene?

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

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72775386-72947443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72793715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 953 (D953E)

Ref Sequence

ENSEMBL: ENSMUSP00000086411 (fasta)

Gene Model

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

AlphaFold

Q8BX90

Predicted Effect

probably benign
Transcript: ENSMUST00000089017
AA Change: D953E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: D953E

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

unknown
Transcript: ENSMUST00000162825
AA Change: D908E

SMART Domains

Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: D908E

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Or8c15	G	T	9: 38,120,670 (GRCm39)	C54F	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	probably damaging	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
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
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'- AGTAGTCTTCATTCTGCTCTGG -3'
(R):5'- GCCTTTGACAGTGGGAAAGATG -3'

Sequencing Primer
(F):5'- AGGTGGTACTGAACAGCA -3'
(R):5'- TCATAGACAGTTTGCAACCAGATAC -3'

Posted On

2014-12-04