Mutagenetix > Incidental Mutation

Incidental Mutation 'R8281:Fam193a'

638192

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R8281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34443436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 171 (N171K)

Ref Sequence

ENSEMBL: ENSMUSP00000143922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000202503]

AlphaFold

Q8CGI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094867
AA Change: N336K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: N336K

Domain	Start	End	E-Value	Type
coiled coil region	113	141	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
low complexity region	347	368	N/A	INTRINSIC
low complexity region	584	593	N/A	INTRINSIC
low complexity region	608	643	N/A	INTRINSIC
low complexity region	676	691	N/A	INTRINSIC
low complexity region	763	785	N/A	INTRINSIC
low complexity region	819	832	N/A	INTRINSIC
coiled coil region	879	946	N/A	INTRINSIC
low complexity region	980	993	N/A	INTRINSIC
low complexity region	1052	1063	N/A	INTRINSIC
low complexity region	1155	1166	N/A	INTRINSIC
Pfam:FAM193_C	1174	1230	3.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180376
AA Change: N622K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: N622K

Domain	Start	End	E-Value	Type
SCOP:d1gvp__	70	93	4e-3	SMART
coiled coil region	399	427	N/A	INTRINSIC
low complexity region	544	556	N/A	INTRINSIC
low complexity region	633	654	N/A	INTRINSIC
low complexity region	870	879	N/A	INTRINSIC
low complexity region	894	929	N/A	INTRINSIC
low complexity region	962	977	N/A	INTRINSIC
low complexity region	1049	1071	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
coiled coil region	1165	1232	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
low complexity region	1338	1349	N/A	INTRINSIC
low complexity region	1441	1452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201005

Predicted Effect

unknown
Transcript: ENSMUST00000202503
AA Change: N171K

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: N171K

Domain	Start	End	E-Value	Type
coiled coil region	29	57	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	A	5: 24,549,010	H417L	probably benign	Het
Adam7	G	A	14: 68,507,885	T630I	possibly damaging	Het
Adgrf3	T	C	5: 30,197,303	S576G	possibly damaging	Het
Asxl1	A	G	2: 153,399,401	R625G	probably damaging	Het
Atp1a1	A	G	3: 101,579,624	F916L	probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
B230359F08Rik	A	G	14: 53,795,461	R3G	possibly damaging	Het
Chd9	A	G	8: 91,036,597	D2350G	probably damaging	Het
Cic	G	A	7: 25,271,824	V327I	probably benign	Het
Crym	T	A	7: 120,202,027		probably benign	Het
Cyp3a13	G	C	5: 137,894,297	S495C	probably benign	Het
D5Ertd579e	A	T	5: 36,613,320	F137I		Het
Dip2a	T	C	10: 76,276,604	T1087A	probably damaging	Het
Drc7	G	A	8: 95,062,177	E288K	possibly damaging	Het
Epb41l4a	T	C	18: 33,878,945	E174G	probably damaging	Het
Ern2	T	C	7: 122,170,260	R848G	probably damaging	Het
F13b	G	T	1: 139,510,951	R364S	probably benign	Het
F2rl1	A	G	13: 95,514,077	L99P	probably damaging	Het
Fst	A	G	13: 114,455,241	S201P	probably benign	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Gm597	C	T	1: 28,778,144	C269Y	possibly damaging	Het
Gm6460	T	A	5: 11,597,679	M128K	probably damaging	Het
Gm8232	A	G	14: 44,437,091	I182V		Het
Gm8251	T	G	1: 44,056,538	D1800A	possibly damaging	Het
Kalrn	C	T	16: 34,035,061	W1956*	probably null	Het
Klk1b16	A	G	7: 44,141,547	M258V	probably benign	Het
Lta4h	G	T	10: 93,453,594	D29Y	probably damaging	Het
March7	C	T	2: 60,234,529	S383L	probably benign	Het
Mob3c	T	C	4: 115,831,438	I56T	probably benign	Het
Msl2	T	C	9: 101,101,695	S423P	probably benign	Het
Otop3	T	C	11: 115,345,075	I511T	possibly damaging	Het
Pbld2	T	G	10: 63,048,026	L90R	probably damaging	Het
Pcdh8	A	G	14: 79,769,479	V548A	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Plch2	T	A	4: 155,006,973	M228L	probably benign	Het
Prkdc	T	C	16: 15,705,253	C1180R	probably damaging	Het
Rasl2-9	A	T	7: 5,125,352	L193*	probably null	Het
Rbp3	A	G	14: 33,956,363	K756R	probably benign	Het
Rp1	T	C	1: 4,347,916	E991G	probably damaging	Het
Slc12a7	G	A	13: 73,790,677	R191H	probably damaging	Het
Spaca6	A	G	17: 17,832,059	N87S	possibly damaging	Het
Stab2	A	T	10: 86,873,864	V1639E	probably damaging	Het
Thpo	T	C	16: 20,725,775	N235S	possibly damaging	Het
Tmem63b	T	A	17: 45,660,796	H831L	probably benign	Het
Tomm20l	T	C	12: 71,111,467	V8A	probably benign	Het
Vill	T	C	9: 119,058,479	S104P	probably damaging	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34431193	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34410657	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34444737	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34443588	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34440463	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34440535	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34465613	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34466208	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34426391	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34439378	missense	possibly damaging	0.85
R0764:Fam193a	UTSW	5	34443341	missense	probably damaging	0.99
R0904:Fam193a	UTSW	5	34462143	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34466292	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34436497	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34462131	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34443372	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34462150	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34465758	missense	possibly damaging	0.96
R3014:Fam193a	UTSW	5	34465672	missense	probably benign	0.33
R4523:Fam193a	UTSW	5	34443371	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34420786	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34459028	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34436531	missense	probably damaging	1.00
R4863:Fam193a	UTSW	5	34466205	missense	possibly damaging	0.86
R5331:Fam193a	UTSW	5	34465571	splice site	probably null
R5364:Fam193a	UTSW	5	34466253	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34420855	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34420788	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34466223	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34465680	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34440472	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34459030	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34443540	splice site	probably null
R7095:Fam193a	UTSW	5	34458034	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34465821	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34485730	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34465635	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34464116	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34420788	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34431182	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34465791	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34431180	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34465653	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34410817	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34440129	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34440533	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34462086	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34440573	missense	probably damaging	0.96
R8554:Fam193a	UTSW	5	34475771	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34420157	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34459030	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34459030	missense	probably benign	0.01
R8896:Fam193a	UTSW	5	34426484	missense	probably benign	0.03
R8943:Fam193a	UTSW	5	34440452	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34459192	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34466017	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34440137	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34440137	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34436491	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34458027	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34420895	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTAGAGGAGATGTCGTGTTC -3'
(R):5'- CTCTGAAGAACTACGGCTGGTG -3'

Sequencing Primer
(F):5'- TGTCCTCCCCAATCGAAGG -3'
(R):5'- TGCTGCTTACCTGAGGGGAC -3'

Posted On

2020-07-28