Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Fam193a'

374637

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34466205 bp (GRCm38)

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: 63,973,209 (GRCm38)	R190H	probably benign	Het
Abcc12	T	A	8: 86,538,376 (GRCm38)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm38)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711 (GRCm38)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316 (GRCm38)	M238K	probably benign	Het
Clmn	A	T	12: 104,797,094 (GRCm38)	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174 (GRCm38)	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747 (GRCm38)	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111 (GRCm38)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230 (GRCm38)		probably benign	Het
Dok3	G	A	13: 55,523,457 (GRCm38)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343 (GRCm38)	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383 (GRCm38)	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565 (GRCm38)	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804 (GRCm38)	V158E	unknown	Het
Fasn	A	G	11: 120,808,828 (GRCm38)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344 (GRCm38)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945 (GRCm38)		probably benign	Het
Fnip1	G	A	11: 54,515,556 (GRCm38)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964 (GRCm38)	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907 (GRCm38)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970 (GRCm38)	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896 (GRCm38)	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989 (GRCm38)		probably benign	Het
Gtf3c2	A	G	5: 31,159,233 (GRCm38)		probably benign	Het
H2-M10.3	T	C	17: 36,366,636 (GRCm38)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492 (GRCm38)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029 (GRCm38)	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972 (GRCm38)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416 (GRCm38)	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967 (GRCm38)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520 (GRCm38)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946 (GRCm38)	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678 (GRCm38)		probably benign	Het
Lama3	C	T	18: 12,539,793 (GRCm38)	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871 (GRCm38)	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871 (GRCm38)		probably benign	Het
Lrrc14	T	A	15: 76,713,362 (GRCm38)		probably null	Het
Lypd8l	A	T	11: 58,612,512 (GRCm38)		probably null	Het
Map4k5	G	A	12: 69,818,438 (GRCm38)	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310 (GRCm38)	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665 (GRCm38)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281 (GRCm38)		probably null	Het
Mical3	T	C	6: 121,033,787 (GRCm38)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507 (GRCm38)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130 (GRCm38)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423 (GRCm38)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638 (GRCm38)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409 (GRCm38)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596 (GRCm38)		probably null	Het
Nxpe3	A	T	16: 55,849,633 (GRCm38)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568 (GRCm38)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108 (GRCm38)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281 (GRCm38)	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592 (GRCm38)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951 (GRCm38)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312 (GRCm38)	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802 (GRCm38)		probably null	Het
Polr1g	T	A	7: 19,357,759 (GRCm38)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 25,097,108 (GRCm38)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702 (GRCm38)		probably benign	Het
Ppp1r42	T	C	1: 10,003,386 (GRCm38)		probably benign	Het
Ptpre	C	T	7: 135,669,132 (GRCm38)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108 (GRCm38)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470 (GRCm38)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421 (GRCm38)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911 (GRCm38)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139 (GRCm38)	M438V	probably benign	Het
Recql	T	G	6: 142,359,006 (GRCm38)		probably benign	Het
Rftn2	A	G	1: 55,172,039 (GRCm38)	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804 (GRCm38)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054 (GRCm38)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002 (GRCm38)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980 (GRCm38)	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948 (GRCm38)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654 (GRCm38)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328 (GRCm38)	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154 (GRCm38)	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003 (GRCm38)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,088,800 (GRCm38)		probably benign	Het
Spata31d1c	T	A	13: 65,035,790 (GRCm38)	L382*	probably null	Het
Stard9	T	A	2: 120,700,860 (GRCm38)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390 (GRCm38)	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936 (GRCm38)	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231 (GRCm38)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,517,750 (GRCm38)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,455,028 (GRCm38)	V1I	probably damaging	Het
Tle2	G	A	10: 81,588,891 (GRCm38)	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945 (GRCm38)	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575 (GRCm38)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708 (GRCm38)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598 (GRCm38)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,189,882 (GRCm38)		probably benign	Het
Yipf4	A	G	17: 74,494,092 (GRCm38)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866 (GRCm38)		probably benign	Het
Zfp426	T	C	9: 20,470,038 (GRCm38)	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772 (GRCm38)	Y430S	probably damaging	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34,431,193 (GRCm38)	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34,410,657 (GRCm38)	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34,444,737 (GRCm38)	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34,443,588 (GRCm38)	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34,440,463 (GRCm38)	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34,440,535 (GRCm38)	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34,465,613 (GRCm38)	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34,466,208 (GRCm38)	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34,426,391 (GRCm38)	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34,439,378 (GRCm38)	missense	possibly damaging	0.85
R0764:Fam193a	UTSW	5	34,443,341 (GRCm38)	missense	probably damaging	0.99
R0904:Fam193a	UTSW	5	34,462,143 (GRCm38)	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34,466,292 (GRCm38)	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34,436,497 (GRCm38)	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34,462,131 (GRCm38)	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34,443,372 (GRCm38)	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34,462,150 (GRCm38)	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34,465,758 (GRCm38)	missense	possibly damaging	0.96
R3014:Fam193a	UTSW	5	34,465,672 (GRCm38)	missense	probably benign	0.33
R4523:Fam193a	UTSW	5	34,443,371 (GRCm38)	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34,420,786 (GRCm38)	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34,459,028 (GRCm38)	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34,436,531 (GRCm38)	missense	probably damaging	1.00
R5331:Fam193a	UTSW	5	34,465,571 (GRCm38)	splice site	probably null
R5364:Fam193a	UTSW	5	34,466,253 (GRCm38)	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34,420,855 (GRCm38)	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34,420,788 (GRCm38)	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34,466,223 (GRCm38)	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34,465,680 (GRCm38)	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34,440,472 (GRCm38)	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34,443,540 (GRCm38)	splice site	probably null
R7095:Fam193a	UTSW	5	34,458,034 (GRCm38)	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34,465,821 (GRCm38)	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34,485,730 (GRCm38)	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34,465,635 (GRCm38)	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34,464,116 (GRCm38)	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34,420,788 (GRCm38)	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34,431,182 (GRCm38)	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34,465,791 (GRCm38)	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34,431,180 (GRCm38)	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34,465,653 (GRCm38)	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34,410,817 (GRCm38)	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34,440,129 (GRCm38)	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34,440,533 (GRCm38)	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34,462,086 (GRCm38)	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34,440,573 (GRCm38)	missense	probably damaging	0.96
R8281:Fam193a	UTSW	5	34,443,436 (GRCm38)	missense	unknown
R8554:Fam193a	UTSW	5	34,475,771 (GRCm38)	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34,420,157 (GRCm38)	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	probably benign	0.01
R8896:Fam193a	UTSW	5	34,426,484 (GRCm38)	missense	probably benign	0.03
R8943:Fam193a	UTSW	5	34,440,452 (GRCm38)	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34,459,192 (GRCm38)	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34,466,017 (GRCm38)	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34,440,137 (GRCm38)	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34,440,137 (GRCm38)	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34,436,491 (GRCm38)	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34,458,027 (GRCm38)	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34,420,895 (GRCm38)	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