Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Fam13c'

275705

Institutional Source

Beutler Lab

Gene Symbol

Fam13c

Ensembl Gene

ENSMUSG00000043259

Gene Name

family with sequence similarity 13, member C

Synonyms

C030038O19Rik, 1200015N20Rik

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70276311-70394566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70378478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 336 (S336L)

Ref Sequence

ENSEMBL: ENSMUSP00000134648 (fasta)

Gene Model

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

AlphaFold

Q9DBR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062883
AA Change: S336L

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259
AA Change: S336L

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

possibly damaging
Transcript: ENSMUST00000105436
AA Change: S254L

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259
AA Change: S254L

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: S336L

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

SMART Domains

Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259
AA Change: S336L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220442

Meta Mutation Damage Score

0.1119

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly damaging	Het

Other mutations in Fam13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Fam13c	APN	10	70,284,646 (GRCm39)	critical splice donor site	probably null
IGL02060:Fam13c	APN	10	70,388,971 (GRCm39)	missense	probably damaging	1.00
IGL03218:Fam13c	APN	10	70,284,599 (GRCm39)	missense	possibly damaging	0.46
R0270:Fam13c	UTSW	10	70,380,343 (GRCm39)	missense	probably benign	0.05
R0418:Fam13c	UTSW	10	70,370,591 (GRCm39)	missense	probably damaging	1.00
R0617:Fam13c	UTSW	10	70,372,182 (GRCm39)	splice site	probably benign
R1712:Fam13c	UTSW	10	70,390,403 (GRCm39)	missense	possibly damaging	0.80
R1967:Fam13c	UTSW	10	70,387,565 (GRCm39)	missense	probably damaging	1.00
R2165:Fam13c	UTSW	10	70,378,523 (GRCm39)	missense	probably damaging	1.00
R3836:Fam13c	UTSW	10	70,378,478 (GRCm39)	missense	probably damaging	1.00
R3838:Fam13c	UTSW	10	70,378,478 (GRCm39)	missense	probably damaging	1.00
R3839:Fam13c	UTSW	10	70,378,478 (GRCm39)	missense	probably damaging	1.00
R4059:Fam13c	UTSW	10	70,390,338 (GRCm39)	missense	probably damaging	1.00
R4768:Fam13c	UTSW	10	70,387,580 (GRCm39)	missense	probably damaging	0.96
R4951:Fam13c	UTSW	10	70,387,621 (GRCm39)	critical splice donor site	probably null
R5259:Fam13c	UTSW	10	70,276,893 (GRCm39)	missense	probably benign	0.16
R5384:Fam13c	UTSW	10	70,388,899 (GRCm39)	missense	probably benign	0.03
R5715:Fam13c	UTSW	10	70,370,670 (GRCm39)	missense	probably damaging	1.00
R6322:Fam13c	UTSW	10	70,334,721 (GRCm39)	missense	probably damaging	0.99
R6404:Fam13c	UTSW	10	70,284,646 (GRCm39)	critical splice donor site	probably null
R6723:Fam13c	UTSW	10	70,390,355 (GRCm39)	missense	probably damaging	1.00
R7111:Fam13c	UTSW	10	70,390,336 (GRCm39)	missense	probably benign	0.23
R8253:Fam13c	UTSW	10	70,389,033 (GRCm39)	missense	probably damaging	1.00
R8306:Fam13c	UTSW	10	70,388,983 (GRCm39)	missense	probably benign	0.00
R8748:Fam13c	UTSW	10	70,378,516 (GRCm39)	missense	probably damaging	1.00
R9112:Fam13c	UTSW	10	70,286,978 (GRCm39)	missense	probably benign	0.08
R9206:Fam13c	UTSW	10	70,388,869 (GRCm39)	missense	probably damaging	1.00
R9208:Fam13c	UTSW	10	70,388,869 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTTCAGCTCGACGTGTC -3'
(R):5'- GCCTCAGTTCAAGAAGGAAAC -3'

Sequencing Primer
(F):5'- AGCTCGACGTGTCTCTGAATTC -3'
(R):5'- GCCTCAGTTCAAGAAGGAAACCAAAG -3'

Posted On

2015-04-06