Mutagenetix > Incidental Mutations

Incidental Mutation 'R3499:Fndc1'

273725

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

040662-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7738569-7827302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7753584 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1505 (M1505I)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097425]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097424

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097425
AA Change: M1505I

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: M1505I

Domain	Start	End	E-Value	Type
Blast:FN3	1	50	6e-25	BLAST
FN3	54	137	7.82e-4	SMART
FN3	156	240	1.48e-4	SMART
FN3	256	340	3.67e-9	SMART
low complexity region	377	388	N/A	INTRINSIC
low complexity region	579	601	N/A	INTRINSIC
low complexity region	646	676	N/A	INTRINSIC
low complexity region	766	777	N/A	INTRINSIC
low complexity region	868	884	N/A	INTRINSIC
low complexity region	1021	1027	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1076	1090	N/A	INTRINSIC
Blast:FN3	1227	1276	2e-18	BLAST
low complexity region	1277	1354	N/A	INTRINSIC
low complexity region	1395	1403	N/A	INTRINSIC
low complexity region	1407	1423	N/A	INTRINSIC
FN3	1494	1577	4.32e-6	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
6430571L13Rik	A	T	9: 107,342,479	T44S	probably damaging	Het
9530053A07Rik	T	A	7: 28,154,555	I1648K	probably benign	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ctif	A	T	18: 75,611,757	L92Q	possibly damaging	Het
Dnah11	C	A	12: 117,911,023	D4036Y	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Dnah6	G	C	6: 73,032,633	A3725G	probably benign	Het
Ebag9	A	G	15: 44,630,132	N117D	probably benign	Het
Elf4	C	T	X: 48,419,065	E158K	probably benign	Het
Ephb6	C	T	6: 41,616,159	R444*	probably null	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Kif13a	T	C	13: 46,825,339	D195G	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ksr2	C	A	5: 117,689,575	T473K	probably damaging	Het
Kxd1	T	C	8: 70,513,982		probably null	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Macf1	A	T	4: 123,527,305	L52*	probably null	Het
Mrgprb5	A	G	7: 48,168,913	S25P	probably benign	Het
Nucb1	T	C	7: 45,498,876	H171R	probably benign	Het
Olfr1049	A	G	2: 86,254,841	M284T	possibly damaging	Het
Olfr1098	A	G	2: 86,923,029	F168L	possibly damaging	Het
Olfr1234	A	T	2: 89,362,950	F160I	probably benign	Het
Olfr689	G	A	7: 105,314,400	C132Y	probably damaging	Het
Olfr934	A	G	9: 38,982,465	L193P	probably damaging	Het
Prkdc	A	T	16: 15,768,025	I2476F	probably damaging	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ralgapa1	T	G	12: 55,695,143		probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Slc28a3	C	T	13: 58,573,439		probably benign	Het
Slc44a4	A	G	17: 34,921,680	D283G	probably benign	Het
Slc6a9	A	G	4: 117,856,803	I105V	probably benign	Het
Smgc	A	G	15: 91,842,003	T51A	possibly damaging	Het
Smyd5	T	A	6: 85,438,190	L60H	probably damaging	Het
Spred1	A	T	2: 117,175,386	M210L	probably benign	Het
Syne2	G	A	12: 76,054,978		probably null	Het
Tab3	T	C	X: 85,615,121	I418T	probably benign	Het
Tbc1d12	A	T	19: 38,896,034	E343V	possibly damaging	Het
Tktl2	T	A	8: 66,513,245	I485N	probably damaging	Het
Tmem181a	T	A	17: 6,280,619	Y51*	probably null	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Trip11	A	G	12: 101,893,694	I307T	possibly damaging	Het
Ttf1	T	C	2: 29,065,487	S288P	possibly damaging	Het
Zfp395	G	T	14: 65,391,293	R198L	possibly damaging	Het

Other mutations in Fndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Fndc1	APN	17	7765254	missense	unknown
IGL00590:Fndc1	APN	17	7765101	missense	unknown
IGL00765:Fndc1	APN	17	7772693	missense	unknown
IGL00904:Fndc1	APN	17	7756363	missense	probably benign	0.35
IGL01153:Fndc1	APN	17	7780042	critical splice donor site	probably null
IGL01557:Fndc1	APN	17	7756389	missense	probably damaging	0.99
IGL02493:Fndc1	APN	17	7775545	missense	unknown
IGL02501:Fndc1	APN	17	7765398	missense	unknown
IGL02503:Fndc1	APN	17	7771516	missense	unknown
IGL02887:Fndc1	APN	17	7773638	missense	unknown
IGL03348:Fndc1	APN	17	7772647	missense	unknown
pinnacle	UTSW	17	7773322	missense	unknown
spire	UTSW	17	7771480	missense	unknown
IGL02988:Fndc1	UTSW	17	7753523	missense	possibly damaging	0.95
PIT4466001:Fndc1	UTSW	17	7750374	missense	probably damaging	1.00
R0336:Fndc1	UTSW	17	7765107	missense	unknown
R0403:Fndc1	UTSW	17	7753723	missense	probably damaging	1.00
R0403:Fndc1	UTSW	17	7775588	splice site	probably null
R0538:Fndc1	UTSW	17	7784341	splice site	probably benign
R0646:Fndc1	UTSW	17	7741673	missense	possibly damaging	0.92
R1140:Fndc1	UTSW	17	7775426	missense	unknown
R1523:Fndc1	UTSW	17	7773209	missense	unknown
R1609:Fndc1	UTSW	17	7772766	missense	unknown
R1632:Fndc1	UTSW	17	7773200	missense	unknown
R1888:Fndc1	UTSW	17	7771789	missense	unknown
R1888:Fndc1	UTSW	17	7771789	missense	unknown
R2004:Fndc1	UTSW	17	7804929	missense	probably damaging	1.00
R2007:Fndc1	UTSW	17	7778748	unclassified	probably benign
R2128:Fndc1	UTSW	17	7778665	unclassified	probably benign
R2187:Fndc1	UTSW	17	7741772	missense	probably damaging	1.00
R2251:Fndc1	UTSW	17	7753607	missense	probably damaging	1.00
R2322:Fndc1	UTSW	17	7789015	missense	probably damaging	0.98
R2425:Fndc1	UTSW	17	7805018	missense	probably damaging	1.00
R2921:Fndc1	UTSW	17	7804875	missense	probably damaging	0.98
R2985:Fndc1	UTSW	17	7756323	missense	possibly damaging	0.93
R3436:Fndc1	UTSW	17	7750357	missense	probably damaging	0.99
R3508:Fndc1	UTSW	17	7765108	nonsense	probably null
R3766:Fndc1	UTSW	17	7784421	missense	probably damaging	1.00
R3813:Fndc1	UTSW	17	7773322	missense	unknown
R3814:Fndc1	UTSW	17	7773322	missense	unknown
R4031:Fndc1	UTSW	17	7769752	nonsense	probably null
R4544:Fndc1	UTSW	17	7773544	missense	unknown
R4583:Fndc1	UTSW	17	7739249	missense	probably damaging	1.00
R4619:Fndc1	UTSW	17	7765204	missense	unknown
R4700:Fndc1	UTSW	17	7771480	missense	unknown
R4743:Fndc1	UTSW	17	7772279	nonsense	probably null
R4803:Fndc1	UTSW	17	7753706	missense	probably damaging	0.98
R4862:Fndc1	UTSW	17	7769735	missense	unknown
R4876:Fndc1	UTSW	17	7771639	missense	unknown
R5057:Fndc1	UTSW	17	7771970	nonsense	probably null
R5327:Fndc1	UTSW	17	7772708	missense	unknown
R5372:Fndc1	UTSW	17	7765210	missense	unknown
R5533:Fndc1	UTSW	17	7772776	missense	unknown
R5754:Fndc1	UTSW	17	7769753	missense	unknown
R5762:Fndc1	UTSW	17	7771534	missense	unknown
R5830:Fndc1	UTSW	17	7789086	missense	possibly damaging	0.87
R5924:Fndc1	UTSW	17	7773610	missense	unknown
R6147:Fndc1	UTSW	17	7753762	splice site	probably null
R6175:Fndc1	UTSW	17	7772647	missense	unknown
R6303:Fndc1	UTSW	17	7758485	missense	probably damaging	0.98
R6377:Fndc1	UTSW	17	7769735	missense	unknown
R6704:Fndc1	UTSW	17	7771810	missense	unknown
R6857:Fndc1	UTSW	17	7772170	missense	unknown
R6865:Fndc1	UTSW	17	7772840	missense	unknown
R7069:Fndc1	UTSW	17	7769735	missense	unknown
R7153:Fndc1	UTSW	17	7801645	missense	probably damaging	1.00
R7159:Fndc1	UTSW	17	7800931	missense	probably damaging	0.97
R7359:Fndc1	UTSW	17	7813486	splice site	probably null
R7731:Fndc1	UTSW	17	7773439	missense	unknown
R7743:Fndc1	UTSW	17	7765137	missense	unknown
R7884:Fndc1	UTSW	17	7773197	missense	unknown
R8071:Fndc1	UTSW	17	7772530	missense	unknown
R8100:Fndc1	UTSW	17	7771853	missense	unknown
R8317:Fndc1	UTSW	17	7800888	nonsense	probably null
R8362:Fndc1	UTSW	17	7782375	missense	unknown
Z1088:Fndc1	UTSW	17	7782479	missense	probably damaging	0.96
Z1176:Fndc1	UTSW	17	7773593	nonsense	probably null
Z1176:Fndc1	UTSW	17	7804877	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCAGTTACCCACATTCCCAAG -3'
(R):5'- AGAAGTCCAACTGAGCATCTCTG -3'

Sequencing Primer
(F):5'- GCTGAAAAAGATGTCTGCCTTCC -3'
(R):5'- AACTGAGCATCTCTGTTCTTTCCAG -3'

Posted On

2015-04-02