Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Fam193a'

607052

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

045906-MU

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34440129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 91 (N91K)

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: N175K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: N175K

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 benign
Transcript: ENSMUST00000180376
AA Change: N461K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: N461K

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

probably benign
Transcript: ENSMUST00000202503
AA Change: N91K

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: N91K

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,680	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,618,022	A123S	probably benign	Het
Adamts20	A	C	15: 94,345,990	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,668,288	V394L	probably benign	Het
Ankrd17	A	C	5: 90,238,966	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 71,692,713	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,924,511	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499	A267V	probably benign	Het
Ces1d	C	T	8: 93,175,067	G425S	probably benign	Het
Col1a1	G	T	11: 94,947,679	R899L	unknown	Het
Commd1	C	T	11: 22,956,532	R168H	possibly damaging	Het
Cps1	T	C	1: 67,174,481	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,004,070	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,641,419	K238N	probably benign	Het
Dlgap4	A	G	2: 156,705,882	D423G	probably benign	Het
Egln1	T	C	8: 124,948,517	N180D	probably benign	Het
Ehd1	T	C	19: 6,277,195	F74S	probably damaging	Het
Ext1	G	A	15: 53,107,485	A350V	probably damaging	Het
Fam186b	T	A	15: 99,280,747	I233F	probably damaging	Het
Far1	T	A	7: 113,554,148	N329K	probably damaging	Het
Fhad1	A	G	4: 141,909,823	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,141,824	S69P	probably damaging	Het
Flg2	C	A	3: 93,220,747	P2322Q	unknown	Het
Flvcr1	A	G	1: 191,025,646	Y108H	probably damaging	Het
Fos	T	A	12: 85,476,018	S235T	probably benign	Het
Foxf1	T	A	8: 121,084,699	S101T	probably damaging	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,054,449	I50V	probably benign	Het
Gkn2	A	G	6: 87,378,273	T155A	probably benign	Het
Gm49333	T	A	16: 20,644,260		probably null	Het
Gna12	C	T	5: 140,760,694	C332Y	probably damaging	Het
H2-Ke6	T	G	17: 34,027,437	D117A	probably benign	Het
Hc	T	A	2: 35,010,033	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Ifi206	A	T	1: 173,471,534	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,357,924	E65A	probably damaging	Het
Kif5a	A	T	10: 127,235,668	Y770*	probably null	Het
Lfng	A	G	5: 140,607,629	S72G	probably benign	Het
Lipo2	C	T	19: 33,759,944		probably benign	Het
Lnpep	C	T	17: 17,562,847	S564N	probably benign	Het
Mfhas1	T	A	8: 35,589,871	L500*	probably null	Het
Mllt6	G	A	11: 97,670,316	V277I	probably benign	Het
Mroh5	C	T	15: 73,791,340	D192N	probably benign	Het
Myo1f	T	A	17: 33,576,698	V106D	probably damaging	Het
Mypn	T	A	10: 63,145,873	I643F	probably benign	Het
Nup188	A	G	2: 30,323,563	N669D	possibly damaging	Het
Olfr126	C	G	17: 37,850,823	T77R	probably damaging	Het
Olfr154	T	C	2: 85,664,345	T30A	probably benign	Het
Olfr281	T	C	15: 98,456,985	V225A	probably benign	Het
Olfr458	A	T	6: 42,460,639	C127S	probably damaging	Het
Osbpl10	A	G	9: 115,207,658	T241A	probably damaging	Het
Peg3	C	T	7: 6,708,840	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,773,647	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911	L152R	probably damaging	Het
Prr36	G	A	8: 4,213,905	P587L	unknown	Het
Psma2	T	A	13: 14,625,247	I192N	probably damaging	Het
Rbm11	T	C	16: 75,593,035	F30L	probably damaging	Het
Rpap3	G	A	15: 97,678,418	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 32,209,382	N98Y	probably damaging	Het
Siglec1	A	G	2: 131,081,292	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,832,992	V228M	probably damaging	Het
Smpd4	T	A	16: 17,642,741	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,801,798	D75G	not run	Het
Sycp3	A	C	10: 88,466,506	K119N	probably damaging	Het
Syne2	T	C	12: 76,031,504	L4703P	probably damaging	Het
Tex12	C	G	9: 50,559,223	L20F	possibly damaging	Het
Them5	T	A	3: 94,343,296	Y55*	probably null	Het
Tmem43	A	T	6: 91,481,986	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 69,767,790	Q44P	unknown	Het
Trbv2	A	T	6: 41,047,902	Q84L	probably benign	Het
Trim2	C	T	3: 84,305,230		probably benign	Het
Trim36	A	G	18: 46,172,491	V475A	probably benign	Het
Ttbk1	C	A	17: 46,447,343	E788D	probably benign	Het
Ttn	T	C	2: 76,713,282	D33120G	probably damaging	Het
Ttn	T	A	2: 76,745,912	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,953,010	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,192,021	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,482,988	K434E	possibly damaging	Het
Vta1	T	C	10: 14,655,717	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	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
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
R8281:Fam193a	UTSW	5	34443436	missense	unknown
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'- AGAGCAGACCTACCTTCTGG -3'
(R):5'- AAGCCAACTCTGAAGGTTGG -3'

Sequencing Primer
(F):5'- TGTGTATCTGGCCAAGACCAG -3'
(R):5'- CCAACTCTGAAGGTTGGGTTCAAAC -3'

Posted On

2019-12-20