Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Fam193a'

374637

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34623549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1379 (V1379E)

Ref Sequence

ENSEMBL: ENSMUSP00000138082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000181379]

AlphaFold

Q8CGI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094867
AA Change: V1093E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: V1093E

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

possibly damaging
Transcript: ENSMUST00000180376
AA Change: V1379E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: V1379E

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

possibly damaging
Transcript: ENSMUST00000181379
AA Change: V26E

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
AA Change: V26E

Domain	Start	End	E-Value	Type
low complexity region	88	99	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201811

Meta Mutation Damage Score

0.1280

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itga3	T	A	11: 94,952,793 (GRCm39)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pde6a	A	T	18: 61,378,663 (GRCm39)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,491,123 (GRCm39)	D173G	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 24,796,533 (GRCm39)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	probably damaging	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34,588,537 (GRCm39)	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34,568,001 (GRCm39)	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34,602,081 (GRCm39)	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34,600,932 (GRCm39)	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34,597,807 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34,597,879 (GRCm39)	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34,622,957 (GRCm39)	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34,623,552 (GRCm39)	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34,583,735 (GRCm39)	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34,596,722 (GRCm39)	missense	possibly damaging	0.85
R0764:Fam193a	UTSW	5	34,600,685 (GRCm39)	missense	probably damaging	0.99
R0904:Fam193a	UTSW	5	34,619,487 (GRCm39)	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34,623,636 (GRCm39)	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34,593,841 (GRCm39)	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34,619,475 (GRCm39)	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34,600,716 (GRCm39)	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34,619,494 (GRCm39)	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34,623,102 (GRCm39)	missense	possibly damaging	0.96
R3014:Fam193a	UTSW	5	34,623,016 (GRCm39)	missense	probably benign	0.33
R4523:Fam193a	UTSW	5	34,600,715 (GRCm39)	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34,578,130 (GRCm39)	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34,616,372 (GRCm39)	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34,593,875 (GRCm39)	missense	probably damaging	1.00
R5331:Fam193a	UTSW	5	34,622,915 (GRCm39)	splice site	probably null
R5364:Fam193a	UTSW	5	34,623,597 (GRCm39)	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34,578,199 (GRCm39)	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34,578,132 (GRCm39)	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34,623,567 (GRCm39)	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34,623,024 (GRCm39)	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34,597,816 (GRCm39)	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34,600,884 (GRCm39)	splice site	probably null
R7095:Fam193a	UTSW	5	34,615,378 (GRCm39)	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34,623,165 (GRCm39)	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34,643,074 (GRCm39)	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34,622,979 (GRCm39)	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34,621,460 (GRCm39)	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34,578,132 (GRCm39)	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34,588,526 (GRCm39)	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34,623,135 (GRCm39)	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34,588,524 (GRCm39)	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34,622,997 (GRCm39)	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34,568,161 (GRCm39)	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34,597,473 (GRCm39)	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34,597,877 (GRCm39)	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34,619,430 (GRCm39)	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34,597,917 (GRCm39)	missense	probably damaging	0.96
R8281:Fam193a	UTSW	5	34,600,780 (GRCm39)	missense	unknown
R8554:Fam193a	UTSW	5	34,633,115 (GRCm39)	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34,577,501 (GRCm39)	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	probably benign	0.01
R8896:Fam193a	UTSW	5	34,583,828 (GRCm39)	missense	probably benign	0.03
R8943:Fam193a	UTSW	5	34,597,796 (GRCm39)	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34,616,536 (GRCm39)	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34,623,361 (GRCm39)	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34,597,481 (GRCm39)	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34,597,481 (GRCm39)	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34,593,835 (GRCm39)	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34,615,371 (GRCm39)	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34,578,239 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCTACAGACCCTGTGGAC -3'
(R):5'- AACTGGCCAGAATCAGCCTG -3'

Sequencing Primer
(F):5'- CTTCTGCTACCTAAGGAAGTCAATGG -3'
(R):5'- AGAATCAGCCTGCCATTCTG -3'

Posted On

2016-03-17