Mutagenetix > Incidental Mutation

Incidental Mutation 'R6857:Fndc1'

535340

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

044959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6857 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7957401-8046134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7991002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 898 (H898L)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

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

AlphaFold

A0A6I8MWX0

Predicted Effect

unknown
Transcript: ENSMUST00000097425
AA Change: H898L

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: H898L

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

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,110,514 (GRCm39)	L545P	possibly damaging	Het
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Ahnak	C	T	19: 9,014,532 (GRCm39)	Q119*	probably null	Het
Anxa10	C	A	8: 62,514,051 (GRCm39)	A239S	probably benign	Het
B020011L13Rik	A	T	1: 117,729,018 (GRCm39)	H175L	probably benign	Het
Best2	A	G	8: 85,734,452 (GRCm39)	V422A	probably benign	Het
Cc2d2b	T	C	19: 40,759,309 (GRCm39)	F298S	possibly damaging	Het
Cd38	T	A	5: 44,063,540 (GRCm39)	M211K	probably damaging	Het
Cd3d	T	G	9: 44,896,902 (GRCm39)	M92R	probably damaging	Het
Cdk5rap2	C	A	4: 70,163,633 (GRCm39)	E1474*	probably null	Het
Clvs1	A	G	4: 9,449,433 (GRCm39)	K341E	probably benign	Het
Copg2	G	T	6: 30,840,533 (GRCm39)	D112E	possibly damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Dmxl1	A	T	18: 49,997,902 (GRCm39)	N697Y	probably damaging	Het
Dync1h1	T	C	12: 110,624,981 (GRCm39)	S3803P	possibly damaging	Het
Ecpas	T	A	4: 58,814,065 (GRCm39)	D1347V	probably damaging	Het
Epx	T	A	11: 87,760,781 (GRCm39)	K384*	probably null	Het
Fam135a	G	C	1: 24,053,870 (GRCm39)	D1222E	probably damaging	Het
Gapvd1	A	G	2: 34,618,389 (GRCm39)	I190T	probably damaging	Het
Hax1	T	G	3: 89,904,759 (GRCm39)	S122R	probably damaging	Het
Hdac9	T	G	12: 34,443,362 (GRCm39)	M272L	probably benign	Het
Itgb7	T	C	15: 102,131,900 (GRCm39)	S228G	probably damaging	Het
Itpr2	C	A	6: 146,298,517 (GRCm39)	E315*	probably null	Het
Kctd8	T	C	5: 69,454,045 (GRCm39)	N331D	probably benign	Het
Ky	G	A	9: 102,419,631 (GRCm39)	G546E	probably damaging	Het
Lao1	T	C	4: 118,821,023 (GRCm39)		probably null	Het
Mtmr12	T	A	15: 12,263,918 (GRCm39)	W427R	probably damaging	Het
Mxra8	A	G	4: 155,927,593 (GRCm39)	K434E	possibly damaging	Het
Myh4	T	C	11: 67,140,711 (GRCm39)	C676R	possibly damaging	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Or5w17	A	T	2: 87,583,831 (GRCm39)	C169S	probably damaging	Het
Or8b50	T	C	9: 38,518,307 (GRCm39)	L182P	probably benign	Het
Or8k35	A	T	2: 86,424,608 (GRCm39)	L188H	probably damaging	Het
Paqr5	G	T	9: 61,883,370 (GRCm39)	H41N	probably damaging	Het
Plekha8	T	C	6: 54,606,920 (GRCm39)	L405P	probably damaging	Het
Plpbp	A	G	8: 27,535,454 (GRCm39)	N79S	possibly damaging	Het
Plxnd1	G	T	6: 115,970,724 (GRCm39)	A348E	probably benign	Het
Prdm9	T	C	17: 15,764,518 (GRCm39)	Q754R	probably benign	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rgs12	A	T	5: 35,187,366 (GRCm39)	K213*	probably null	Het
Serpina3m	T	C	12: 104,355,585 (GRCm39)	L84P	probably damaging	Het
Tab2	T	C	10: 7,796,177 (GRCm39)	T102A	possibly damaging	Het
Tagln3	G	T	16: 45,544,599 (GRCm39)	A24E	probably benign	Het
Tanc2	A	G	11: 105,801,114 (GRCm39)	E1110G	possibly damaging	Het
Tcf3	T	C	10: 80,252,733 (GRCm39)		probably null	Het
Tmem14a	T	C	1: 21,299,769 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,748,275 (GRCm39)	E4258V	possibly damaging	Het
Ubr4	G	A	4: 139,213,362 (GRCm39)	D5104N	possibly damaging	Het
Ugt2b37	C	G	5: 87,388,705 (GRCm39)	A503P	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r88	A	T	7: 12,912,258 (GRCm39)	M205L	possibly damaging	Het
Vmn2r109	C	T	17: 20,760,932 (GRCm39)	M808I	probably benign	Het
Wdr72	G	T	9: 74,062,323 (GRCm39)	V490L	probably damaging	Het
Zfp1004	G	T	2: 150,033,982 (GRCm39)	C132F	probably damaging	Het
Zfp998	A	T	13: 66,580,161 (GRCm39)	H107Q	probably benign	Het
Zgrf1	T	A	3: 127,375,096 (GRCm39)	V785E	probably damaging	Het
Zswim7	A	T	11: 62,171,955 (GRCm39)		probably benign	Het

Other mutations in Fndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Fndc1	APN	17	7,984,086 (GRCm39)	missense	unknown
IGL00590:Fndc1	APN	17	7,983,933 (GRCm39)	missense	unknown
IGL00765:Fndc1	APN	17	7,991,525 (GRCm39)	missense	unknown
IGL00904:Fndc1	APN	17	7,975,195 (GRCm39)	missense	probably benign	0.35
IGL01153:Fndc1	APN	17	7,998,874 (GRCm39)	critical splice donor site	probably null
IGL01557:Fndc1	APN	17	7,975,221 (GRCm39)	missense	probably damaging	0.99
IGL02493:Fndc1	APN	17	7,994,377 (GRCm39)	missense	unknown
IGL02501:Fndc1	APN	17	7,984,230 (GRCm39)	missense	unknown
IGL02503:Fndc1	APN	17	7,990,348 (GRCm39)	missense	unknown
IGL02887:Fndc1	APN	17	7,992,470 (GRCm39)	missense	unknown
IGL03348:Fndc1	APN	17	7,991,479 (GRCm39)	missense	unknown
pinnacle	UTSW	17	7,992,154 (GRCm39)	missense	unknown
spire	UTSW	17	7,990,312 (GRCm39)	missense	unknown
IGL02988:Fndc1	UTSW	17	7,972,355 (GRCm39)	missense	possibly damaging	0.95
PIT4466001:Fndc1	UTSW	17	7,969,206 (GRCm39)	missense	probably damaging	1.00
R0336:Fndc1	UTSW	17	7,983,939 (GRCm39)	missense	unknown
R0403:Fndc1	UTSW	17	7,994,420 (GRCm39)	splice site	probably null
R0403:Fndc1	UTSW	17	7,972,555 (GRCm39)	missense	probably damaging	1.00
R0538:Fndc1	UTSW	17	8,003,173 (GRCm39)	splice site	probably benign
R0646:Fndc1	UTSW	17	7,960,505 (GRCm39)	missense	possibly damaging	0.92
R1140:Fndc1	UTSW	17	7,994,258 (GRCm39)	missense	unknown
R1523:Fndc1	UTSW	17	7,992,041 (GRCm39)	missense	unknown
R1609:Fndc1	UTSW	17	7,991,598 (GRCm39)	missense	unknown
R1632:Fndc1	UTSW	17	7,992,032 (GRCm39)	missense	unknown
R1888:Fndc1	UTSW	17	7,990,621 (GRCm39)	missense	unknown
R1888:Fndc1	UTSW	17	7,990,621 (GRCm39)	missense	unknown
R2004:Fndc1	UTSW	17	8,023,761 (GRCm39)	missense	probably damaging	1.00
R2007:Fndc1	UTSW	17	7,997,580 (GRCm39)	unclassified	probably benign
R2128:Fndc1	UTSW	17	7,997,497 (GRCm39)	unclassified	probably benign
R2187:Fndc1	UTSW	17	7,960,604 (GRCm39)	missense	probably damaging	1.00
R2251:Fndc1	UTSW	17	7,972,439 (GRCm39)	missense	probably damaging	1.00
R2322:Fndc1	UTSW	17	8,007,847 (GRCm39)	missense	probably damaging	0.98
R2425:Fndc1	UTSW	17	8,023,850 (GRCm39)	missense	probably damaging	1.00
R2921:Fndc1	UTSW	17	8,023,707 (GRCm39)	missense	probably damaging	0.98
R2985:Fndc1	UTSW	17	7,975,155 (GRCm39)	missense	possibly damaging	0.93
R3436:Fndc1	UTSW	17	7,969,189 (GRCm39)	missense	probably damaging	0.99
R3499:Fndc1	UTSW	17	7,972,416 (GRCm39)	missense	possibly damaging	0.70
R3508:Fndc1	UTSW	17	7,983,940 (GRCm39)	nonsense	probably null
R3766:Fndc1	UTSW	17	8,003,253 (GRCm39)	missense	probably damaging	1.00
R3813:Fndc1	UTSW	17	7,992,154 (GRCm39)	missense	unknown
R3814:Fndc1	UTSW	17	7,992,154 (GRCm39)	missense	unknown
R4031:Fndc1	UTSW	17	7,988,584 (GRCm39)	nonsense	probably null
R4544:Fndc1	UTSW	17	7,992,376 (GRCm39)	missense	unknown
R4583:Fndc1	UTSW	17	7,958,081 (GRCm39)	missense	probably damaging	1.00
R4619:Fndc1	UTSW	17	7,984,036 (GRCm39)	missense	unknown
R4700:Fndc1	UTSW	17	7,990,312 (GRCm39)	missense	unknown
R4743:Fndc1	UTSW	17	7,991,111 (GRCm39)	nonsense	probably null
R4803:Fndc1	UTSW	17	7,972,538 (GRCm39)	missense	probably damaging	0.98
R4862:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R4876:Fndc1	UTSW	17	7,990,471 (GRCm39)	missense	unknown
R5057:Fndc1	UTSW	17	7,990,802 (GRCm39)	nonsense	probably null
R5327:Fndc1	UTSW	17	7,991,540 (GRCm39)	missense	unknown
R5372:Fndc1	UTSW	17	7,984,042 (GRCm39)	missense	unknown
R5533:Fndc1	UTSW	17	7,991,608 (GRCm39)	missense	unknown
R5754:Fndc1	UTSW	17	7,988,585 (GRCm39)	missense	unknown
R5762:Fndc1	UTSW	17	7,990,366 (GRCm39)	missense	unknown
R5830:Fndc1	UTSW	17	8,007,918 (GRCm39)	missense	possibly damaging	0.87
R5924:Fndc1	UTSW	17	7,992,442 (GRCm39)	missense	unknown
R6147:Fndc1	UTSW	17	7,972,594 (GRCm39)	splice site	probably null
R6175:Fndc1	UTSW	17	7,991,479 (GRCm39)	missense	unknown
R6303:Fndc1	UTSW	17	7,977,317 (GRCm39)	missense	probably damaging	0.98
R6377:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R6704:Fndc1	UTSW	17	7,990,642 (GRCm39)	missense	unknown
R6865:Fndc1	UTSW	17	7,991,672 (GRCm39)	missense	unknown
R7069:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R7153:Fndc1	UTSW	17	8,020,477 (GRCm39)	missense	probably damaging	1.00
R7159:Fndc1	UTSW	17	8,019,763 (GRCm39)	missense	probably damaging	0.97
R7359:Fndc1	UTSW	17	8,032,318 (GRCm39)	splice site	probably null
R7731:Fndc1	UTSW	17	7,992,271 (GRCm39)	missense	unknown
R7743:Fndc1	UTSW	17	7,983,969 (GRCm39)	missense	unknown
R7884:Fndc1	UTSW	17	7,992,029 (GRCm39)	missense	unknown
R8071:Fndc1	UTSW	17	7,991,362 (GRCm39)	missense	unknown
R8100:Fndc1	UTSW	17	7,990,685 (GRCm39)	missense	unknown
R8317:Fndc1	UTSW	17	8,019,720 (GRCm39)	nonsense	probably null
R8362:Fndc1	UTSW	17	8,001,207 (GRCm39)	missense	unknown
R8835:Fndc1	UTSW	17	7,958,111 (GRCm39)	missense	probably damaging	1.00
R8841:Fndc1	UTSW	17	7,992,181 (GRCm39)	missense	unknown
R8912:Fndc1	UTSW	17	8,019,778 (GRCm39)	missense	probably null	0.26
R9236:Fndc1	UTSW	17	7,992,460 (GRCm39)	missense	unknown
R9392:Fndc1	UTSW	17	7,991,957 (GRCm39)	missense	unknown
R9412:Fndc1	UTSW	17	7,991,198 (GRCm39)	missense	unknown
R9618:Fndc1	UTSW	17	7,990,313 (GRCm39)	missense	unknown
R9632:Fndc1	UTSW	17	7,991,622 (GRCm39)	missense	unknown
R9748:Fndc1	UTSW	17	7,991,929 (GRCm39)	missense	unknown
Z1088:Fndc1	UTSW	17	8,001,311 (GRCm39)	missense	probably damaging	0.96
Z1176:Fndc1	UTSW	17	8,023,709 (GRCm39)	missense	possibly damaging	0.90
Z1176:Fndc1	UTSW	17	7,992,425 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCATCTGCTGAGGTTTGAG -3'
(R):5'- TCAACTGAGCACGGATGAG -3'

Sequencing Primer
(F):5'- CCATCTGCTGAGGTTTGAGAATGG -3'
(R):5'- GGGTGCTCCTCAAACACCTC -3'

Posted On

2018-09-12