Mutagenetix > Incidental Mutations

Incidental Mutation 'R1632:Fndc1'

172877

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

039669-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7738569-7827302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7773200 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 555 (T555A)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000097425
AA Change: T555A

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: T555A

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	C	9: 51,290,402	D118G	probably damaging	Het
AF529169	T	A	9: 89,602,360	H328L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Arhgap28	A	T	17: 67,849,074	Y696N	probably damaging	Het
C77080	A	G	4: 129,222,666	M735T	possibly damaging	Het
Cachd1	A	G	4: 100,966,972	T537A	probably benign	Het
Capn15	A	T	17: 25,960,665	F841Y	probably damaging	Het
Card10	G	A	15: 78,791,220	R396*	probably null	Het
Chd9	A	T	8: 90,956,707	K592*	probably null	Het
Cyp2j8	T	A	4: 96,447,324	H411L	probably benign	Het
Dhcr24	G	T	4: 106,585,951	M394I	probably benign	Het
Dhrs3	T	C	4: 144,893,546	V11A	probably benign	Het
Dync1li2	A	T	8: 104,437,491	I134N	probably damaging	Het
Enpp4	G	T	17: 44,099,653	S344Y	probably damaging	Het
Ephb3	T	C	16: 21,212,937	S14P	probably benign	Het
Fancm	T	G	12: 65,130,331	I1983S	probably damaging	Het
Gemin4	A	T	11: 76,210,989	M982K	probably benign	Het
Gtpbp2	A	G	17: 46,168,592	R590G	probably benign	Het
H2-M3	G	A	17: 37,271,163	R170H	probably benign	Het
Hoxa13	G	T	6: 52,259,937	N278K	probably damaging	Het
Hspb3	A	G	13: 113,663,053	V147A	probably benign	Het
Il6st	G	T	13: 112,504,332	D820Y	possibly damaging	Het
Kdm7a	A	G	6: 39,152,898	V448A	probably benign	Het
Kmt2b	T	C	7: 30,583,962	D991G	probably damaging	Het
Kri1	T	C	9: 21,282,211	D140G	possibly damaging	Het
Limk2	A	G	11: 3,346,250	L399P	probably damaging	Het
Lrrc9	T	A	12: 72,460,020		probably null	Het
Map2	C	T	1: 66,415,086	T1045M	possibly damaging	Het
Map4k5	T	C	12: 69,828,047	I321V	probably benign	Het
Mpp5	T	A	12: 78,797,038	Y5*	probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh7b	A	G	2: 155,620,525	S383G	probably benign	Het
Nostrin	A	G	2: 69,175,734	K254R	probably benign	Het
Nphp1	G	T	2: 127,770,392	P212T	probably benign	Het
Olfr988	A	T	2: 85,353,242	M228K	possibly damaging	Het
Pclo	A	C	5: 14,680,003		probably benign	Het
Phf19	G	A	2: 34,911,619	R60W	probably damaging	Het
Psg18	G	A	7: 18,350,899	P91S	probably benign	Het
Rttn	C	T	18: 89,009,336	T525I	probably benign	Het
Ryr1	T	C	7: 29,094,261	M1268V	probably benign	Het
Slc25a2	T	C	18: 37,637,687	E263G	possibly damaging	Het
Slc32a1	C	T	2: 158,613,890	A155V	possibly damaging	Het
Slc6a19	A	T	13: 73,689,908		probably null	Het
Socs4	A	G	14: 47,289,577		probably benign	Het
Tas2r118	A	G	6: 23,969,261	I267T	probably benign	Het
Tpte	G	A	8: 22,349,347	C470Y	probably damaging	Het
Usp17la	A	T	7: 104,860,911	H241L	probably benign	Het
Vmn2r72	T	A	7: 85,751,792	I140F	probably benign	Het
Zfp329	T	C	7: 12,810,949	D216G	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	intron	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
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
R3499:Fndc1	UTSW	17	7753584	missense	possibly damaging	0.70
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	intron	probably null
R7731:Fndc1	UTSW	17	7773439	missense	unknown
R7743:Fndc1	UTSW	17	7765137	missense	unknown
Z1088:Fndc1	UTSW	17	7782479	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACATCCTGGCGATCCCTAGAAAGTG -3'
(R):5'- CGGTTGGAGACCCTAAATCAGAAGC -3'

Sequencing Primer
(F):5'- ATCCCTAGAAAGTGCGGGTC -3'
(R):5'- TGACTCCTGGTAGGACTCC -3'

Posted On

2014-04-24