Mutagenetix > Incidental Mutation

Incidental Mutation 'R9206:Fam13c'

698535

Institutional Source

Beutler Lab

Gene Symbol

Fam13c

Ensembl Gene

ENSMUSG00000043259

Gene Name

family with sequence similarity 13, member C

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R9206 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70440481-70558736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70553039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 465 (E465G)

Ref Sequence

ENSEMBL: ENSMUSP00000051375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000062883] [ENSMUST00000105436] [ENSMUST00000173042]

AlphaFold

Q9DBR2

Predicted Effect

probably benign
Transcript: ENSMUST00000046513

SMART Domains

Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747

Domain	Start	End	E-Value	Type
FN3	49	142	6.16e-2	SMART
Blast:FN3	188	262	2e-45	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000062883
AA Change: E465G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259
AA Change: E465G

Domain	Start	End	E-Value	Type
low complexity region	200	222	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
coiled coil region	304	372	N/A	INTRINSIC
coiled coil region	529	557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105436
AA Change: E383G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259
AA Change: E383G

Domain	Start	End	E-Value	Type
low complexity region	118	140	N/A	INTRINSIC
low complexity region	192	212	N/A	INTRINSIC
coiled coil region	222	290	N/A	INTRINSIC
coiled coil region	447	475	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173042
AA Change: E464G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259
AA Change: E464G

Domain	Start	End	E-Value	Type
low complexity region	200	222	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
coiled coil region	304	372	N/A	INTRINSIC
coiled coil region	528	556	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	G	17: 45,509,404	D248G	probably benign	Het
Abcc5	C	A	16: 20,389,389	V605F	probably benign	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Als2	A	G	1: 59,185,247	Y1066H	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Apex1	T	G	14: 50,925,668	D69E	possibly damaging	Het
Atg13	A	T	2: 91,682,061	F288I	probably benign	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
Atoh1	A	G	6: 64,729,729	E136G	probably benign	Het
Ccr7	T	C	11: 99,149,069	N9S	probably benign	Het
Cdhr1	A	C	14: 37,080,548	W653G	probably damaging	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Crnn	A	C	3: 93,146,944	I45L	possibly damaging	Het
Cse1l	C	A	2: 166,941,265	N743K	probably damaging	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dnah7a	G	T	1: 53,501,598	T2539N	probably benign	Het
Fat4	G	C	3: 39,009,241	G4449R	probably damaging	Het
Fgd5	T	C	6: 92,038,210	L964S	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm973	A	T	1: 59,552,426	Q323L	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Iars2	A	T	1: 185,317,949	M446K	possibly damaging	Het
Kcnh7	A	G	2: 62,777,603	S545P	probably damaging	Het
Kif1a	G	T	1: 93,051,480	D928E	probably damaging	Het
Kif26a	C	T	12: 112,178,046	T1578M	possibly damaging	Het
Kif5a	A	G	10: 127,243,358		probably null	Het
Klhl31	T	A	9: 77,651,107	Y368*	probably null	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lamc1	A	T	1: 153,250,451	H498Q	probably damaging	Het
Ltbp4	A	T	7: 27,322,925	C924S	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nlrp9a	C	A	7: 26,558,231	L425M	possibly damaging	Het
Nop9	T	A	14: 55,750,135		probably null	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Nt5c3	C	A	6: 56,897,808	M1I	probably null	Het
Olfr1314	A	G	2: 112,092,065	F212S	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
Rbm27	T	A	18: 42,314,098	Y469*	probably null	Het
Rbm33	A	G	5: 28,352,586	T266A	probably damaging	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rcor3	A	T	1: 192,101,595	*448R	probably null	Het
Scn10a	T	C	9: 119,616,761	Y1442C	probably damaging	Het
Scn2a	A	T	2: 65,717,787	I1108F	probably damaging	Het
Scrn2	T	C	11: 97,032,136	I135T	probably damaging	Het
Sptan1	A	T	2: 30,030,712	M2380L	possibly damaging	Het
Tbc1d12	T	C	19: 38,836,998	S98P	probably benign	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Tor4a	A	T	2: 25,194,963	N309K	probably damaging	Het
Trbv4	A	G	6: 41,059,690	T50A	probably benign	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Tvp23b	T	C	11: 62,882,016	I31T	possibly damaging	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r6	T	A	3: 64,559,611	I156F	probably damaging	Het
Wnk4	T	C	11: 101,274,056	I737T	probably damaging	Het
Zfp329	A	T	7: 12,811,158	D146E	probably benign	Het
Zfp40	A	G	17: 23,175,577	F679L	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp804b	T	C	5: 6,772,154	N303S	probably benign	Het

Other mutations in Fam13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Fam13c	APN	10	70448816	critical splice donor site	probably null
IGL02060:Fam13c	APN	10	70553141	missense	probably damaging	1.00
IGL03218:Fam13c	APN	10	70448769	missense	possibly damaging	0.46
R0270:Fam13c	UTSW	10	70544513	missense	probably benign	0.05
R0418:Fam13c	UTSW	10	70534761	missense	probably damaging	1.00
R0617:Fam13c	UTSW	10	70536352	splice site	probably benign
R1712:Fam13c	UTSW	10	70554573	missense	possibly damaging	0.80
R1967:Fam13c	UTSW	10	70551735	missense	probably damaging	1.00
R2165:Fam13c	UTSW	10	70542693	missense	probably damaging	1.00
R3836:Fam13c	UTSW	10	70542648	missense	probably damaging	1.00
R3837:Fam13c	UTSW	10	70542648	missense	probably damaging	1.00
R3838:Fam13c	UTSW	10	70542648	missense	probably damaging	1.00
R3839:Fam13c	UTSW	10	70542648	missense	probably damaging	1.00
R4059:Fam13c	UTSW	10	70554508	missense	probably damaging	1.00
R4768:Fam13c	UTSW	10	70551750	missense	probably damaging	0.96
R4951:Fam13c	UTSW	10	70551791	critical splice donor site	probably null
R5259:Fam13c	UTSW	10	70441063	missense	probably benign	0.16
R5384:Fam13c	UTSW	10	70553069	missense	probably benign	0.03
R5715:Fam13c	UTSW	10	70534840	missense	probably damaging	1.00
R6322:Fam13c	UTSW	10	70498891	missense	probably damaging	0.99
R6404:Fam13c	UTSW	10	70448816	critical splice donor site	probably null
R6723:Fam13c	UTSW	10	70554525	missense	probably damaging	1.00
R7111:Fam13c	UTSW	10	70554506	missense	probably benign	0.23
R8253:Fam13c	UTSW	10	70553203	missense	probably damaging	1.00
R8306:Fam13c	UTSW	10	70553153	missense	probably benign	0.00
R8748:Fam13c	UTSW	10	70542686	missense	probably damaging	1.00
R9112:Fam13c	UTSW	10	70451148	missense	probably benign	0.08
R9208:Fam13c	UTSW	10	70553039	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGTAGCCAAGCAAGGATGTC -3'
(R):5'- ACATGGTGGCCTCGTGTAAG -3'

Sequencing Primer
(F):5'- GTAGCCAAGCAAGGATGTCTCTTTC -3'
(R):5'- CCTCGTGTAAGTTGGACATGGAGAG -3'

Posted On

2022-02-07