Mutagenetix > Incidental Mutation

Incidental Mutation 'R7932:Fam13a'

643642

Institutional Source

Beutler Lab

Gene Symbol

Fam13a

Ensembl Gene

ENSMUSG00000037709

Gene Name

family with sequence similarity 13, member A

Synonyms

D430015B01Rik

MMRRC Submission

045649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7932 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

58910521-59001487 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 58960873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089860] [ENSMUST00000173193]

AlphaFold

Q8BGI4

Predicted Effect

probably null
Transcript: ENSMUST00000089860

SMART Domains

Protein: ENSMUSP00000087304
Gene: ENSMUSG00000037709

Domain	Start	End	E-Value	Type
Blast:RhoGAP	19	128	6e-27	BLAST
low complexity region	136	147	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	173	185	N/A	INTRINSIC
coiled coil region	336	363	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC
coiled coil region	620	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173193

SMART Domains

Protein: ENSMUSP00000134135
Gene: ENSMUSG00000037709

Domain	Start	End	E-Value	Type
Blast:RhoGAP	21	128	6e-27	BLAST
low complexity region	136	147	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	173	185	N/A	INTRINSIC
coiled coil region	336	363	N/A	INTRINSIC
low complexity region	419	433	N/A	INTRINSIC
coiled coil region	592	617	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Adam33	G	A	2: 130,905,617 (GRCm39)		probably benign	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly damaging	Het

Other mutations in Fam13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00265:Fam13a	APN	6	58,923,111 (GRCm39)	missense	probably benign	0.03
IGL00467:Fam13a	APN	6	58,917,098 (GRCm39)	splice site	probably benign
IGL01288:Fam13a	APN	6	58,933,712 (GRCm39)	missense	probably damaging	1.00
IGL01503:Fam13a	APN	6	58,933,065 (GRCm39)	missense	probably damaging	1.00
IGL01532:Fam13a	APN	6	58,917,280 (GRCm39)	missense	probably damaging	0.96
IGL02197:Fam13a	APN	6	58,912,586 (GRCm39)	missense	possibly damaging	0.65
IGL02206:Fam13a	APN	6	58,964,204 (GRCm39)	missense	probably benign	0.00
IGL03189:Fam13a	APN	6	58,933,843 (GRCm39)	missense	probably damaging	0.99
BB009:Fam13a	UTSW	6	58,960,873 (GRCm39)	critical splice donor site	probably null
BB019:Fam13a	UTSW	6	58,960,873 (GRCm39)	critical splice donor site	probably null
R0361:Fam13a	UTSW	6	58,964,159 (GRCm39)	missense	probably benign
R0512:Fam13a	UTSW	6	58,933,684 (GRCm39)	missense	probably damaging	1.00
R0801:Fam13a	UTSW	6	58,960,997 (GRCm39)	missense	probably benign	0.01
R1222:Fam13a	UTSW	6	58,912,707 (GRCm39)	splice site	probably benign
R1378:Fam13a	UTSW	6	58,933,736 (GRCm39)	missense	probably benign	0.04
R1535:Fam13a	UTSW	6	58,916,332 (GRCm39)	missense	probably damaging	0.99
R1614:Fam13a	UTSW	6	58,917,169 (GRCm39)	missense	probably damaging	1.00
R1663:Fam13a	UTSW	6	58,931,357 (GRCm39)	nonsense	probably null
R1809:Fam13a	UTSW	6	58,942,045 (GRCm39)	critical splice donor site	probably null
R1905:Fam13a	UTSW	6	58,930,475 (GRCm39)	missense	probably damaging	1.00
R2568:Fam13a	UTSW	6	58,912,594 (GRCm39)	missense	probably damaging	1.00
R3771:Fam13a	UTSW	6	58,964,171 (GRCm39)	missense	probably benign	0.11
R4654:Fam13a	UTSW	6	58,964,152 (GRCm39)	missense	probably benign
R5244:Fam13a	UTSW	6	58,930,459 (GRCm39)	nonsense	probably null
R5488:Fam13a	UTSW	6	59,001,303 (GRCm39)	missense	probably null	1.00
R5489:Fam13a	UTSW	6	59,001,303 (GRCm39)	missense	probably null	1.00
R5712:Fam13a	UTSW	6	58,933,684 (GRCm39)	missense	probably damaging	1.00
R5729:Fam13a	UTSW	6	58,916,292 (GRCm39)	missense	probably damaging	0.99
R5969:Fam13a	UTSW	6	58,942,183 (GRCm39)	missense	probably damaging	1.00
R6074:Fam13a	UTSW	6	58,966,723 (GRCm39)	splice site	probably null
R6275:Fam13a	UTSW	6	58,931,242 (GRCm39)	missense	probably damaging	0.98
R6306:Fam13a	UTSW	6	58,917,239 (GRCm39)	missense	probably benign	0.02
R6338:Fam13a	UTSW	6	58,930,484 (GRCm39)	missense	probably damaging	1.00
R6603:Fam13a	UTSW	6	58,964,174 (GRCm39)	missense	probably benign	0.31
R7508:Fam13a	UTSW	6	58,964,269 (GRCm39)	missense	probably damaging	1.00
R7516:Fam13a	UTSW	6	58,932,248 (GRCm39)	missense	probably damaging	1.00
R7688:Fam13a	UTSW	6	58,912,692 (GRCm39)	missense	probably benign	0.05
R7728:Fam13a	UTSW	6	58,931,284 (GRCm39)	missense	possibly damaging	0.79
R8080:Fam13a	UTSW	6	58,933,790 (GRCm39)	missense	probably damaging	1.00
R9494:Fam13a	UTSW	6	58,930,508 (GRCm39)	missense	probably benign	0.00
R9671:Fam13a	UTSW	6	58,951,014 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTTGCTCTTTGGGCAAAATG -3'
(R):5'- TCCCAGGGAGCTTATCAACAAG -3'

Sequencing Primer
(F):5'- GGGCAAAATGTCTGTCACAGTTCTC -3'
(R):5'- GGAGAATATCCCCTCTGGCTTCAG -3'

Posted On

2020-08-07