Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Fam193a'

577876

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

MMRRC Submission

045527-MU

Accession Numbers

Essential gene?

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

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34621460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1139 (E1139V)

Ref Sequence

ENSEMBL: ENSMUSP00000138082 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094867
AA Change: E853V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E853V

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: E1139V

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E1139V

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: ENSMUST00000181379

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,309 (GRCm39)	S32P	possibly damaging	Het
Acaca	T	C	11: 84,136,136 (GRCm39)	V497A	probably benign	Het
Acox1	T	C	11: 116,071,787 (GRCm39)	T214A	probably benign	Het
Adgrb2	G	A	4: 129,908,430 (GRCm39)		probably null	Het
Adh1	G	A	3: 137,995,702 (GRCm39)		probably null	Het
Angptl1	G	T	1: 156,672,421 (GRCm39)	M82I	probably benign	Het
Arg1	A	G	10: 24,791,674 (GRCm39)	L269P	probably damaging	Het
Arid2	T	G	15: 96,268,605 (GRCm39)	V906G	probably benign	Het
Arid5b	A	T	10: 68,078,994 (GRCm39)	H114Q	probably benign	Het
Atad5	T	C	11: 80,009,969 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,729,493 (GRCm39)		probably null	Het
B230104I21Rik	A	T	4: 154,432,185 (GRCm39)	T44S	unknown	Het
BC024063	G	A	10: 81,945,991 (GRCm39)	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,330,306 (GRCm39)	L177Q	probably damaging	Het
Birc5	C	A	11: 117,743,507 (GRCm39)	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,106,615 (GRCm39)	L382P	probably damaging	Het
Ces2c	A	T	8: 105,576,302 (GRCm39)	N105I	probably benign	Het
Cfap91	A	G	16: 38,141,841 (GRCm39)	S364P	possibly damaging	Het
Cflar	G	A	1: 58,792,956 (GRCm39)	V441M		Het
Ckap4	A	G	10: 84,364,463 (GRCm39)	V200A	probably damaging	Het
Clec16a	C	A	16: 10,462,686 (GRCm39)	T668N	probably damaging	Het
Cntrl	A	C	2: 35,045,421 (GRCm39)	E1376D	possibly damaging	Het
Col18a1	A	T	10: 76,921,044 (GRCm39)		probably null	Het
Coq2	T	C	5: 100,811,452 (GRCm39)	Y179C	probably benign	Het
Cpne6	A	G	14: 55,749,473 (GRCm39)	E11G	probably benign	Het
Cr2	A	C	1: 194,847,565 (GRCm39)		probably null	Het
Csf2rb2	C	T	15: 78,169,491 (GRCm39)	D555N	probably benign	Het
Cyp2j12	A	T	4: 95,990,363 (GRCm39)	V401D	possibly damaging	Het
Dbp	C	T	7: 45,355,127 (GRCm39)	A27V	probably benign	Het
Dll1	C	A	17: 15,595,151 (GRCm39)	R42L	probably benign	Het
Dst	C	A	1: 34,230,439 (GRCm39)	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,330,675 (GRCm39)	V283F	possibly damaging	Het
Enah	C	T	1: 181,789,470 (GRCm39)	C7Y	unknown	Het
Fbn1	G	A	2: 125,162,879 (GRCm39)	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,485,927 (GRCm39)	V91A	probably damaging	Het
Fn1	T	A	1: 71,630,039 (GRCm39)	D2343V	probably damaging	Het
Galk2	T	C	2: 125,729,781 (GRCm39)	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,179,350 (GRCm39)	Y193F	probably damaging	Het
Gm45861	G	T	8: 28,031,686 (GRCm39)	R867L	unknown	Het
Grin2b	T	C	6: 135,717,947 (GRCm39)	D715G	possibly damaging	Het
Hltf	A	T	3: 20,136,916 (GRCm39)	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,772,310 (GRCm39)	M111T	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Kat14	T	C	2: 144,222,654 (GRCm39)	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673 (GRCm39)	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,989 (GRCm39)		probably null	Het
Klra10	A	G	6: 130,257,327 (GRCm39)	V59A	probably damaging	Het
Limk1	T	A	5: 134,698,091 (GRCm39)	I223F	probably damaging	Het
Lrp10	G	A	14: 54,705,913 (GRCm39)	G368S	probably damaging	Het
Lrrc7	T	C	3: 157,891,046 (GRCm39)	R374G	probably benign	Het
Lypd1	T	A	1: 125,801,303 (GRCm39)	M66L	probably benign	Het
Mast4	C	T	13: 102,941,149 (GRCm39)		probably null	Het
Mbp	C	T	18: 82,572,768 (GRCm39)	H155Y	probably damaging	Het
Micu3	G	A	8: 40,788,939 (GRCm39)	C150Y	probably benign	Het
Mras	C	T	9: 99,271,793 (GRCm39)	V174I	probably benign	Het
Mroh1	T	A	15: 76,317,745 (GRCm39)	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,203,026 (GRCm39)	G101*	probably null	Het
Mylk2	A	T	2: 152,754,353 (GRCm39)	K149M	probably damaging	Het
Myom3	T	A	4: 135,528,346 (GRCm39)	L1064I	probably damaging	Het
Naa30	A	G	14: 49,425,144 (GRCm39)	*365W	probably null	Het
Ncoa1	C	T	12: 4,309,307 (GRCm39)	G1330R	probably damaging	Het
Nhlh1	T	A	1: 171,881,846 (GRCm39)	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882 (GRCm39)	Q110R	probably benign	Het
Nostrin	T	C	2: 69,014,240 (GRCm39)	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,351,431 (GRCm39)	T263K	possibly damaging	Het
Nup153	T	C	13: 46,834,657 (GRCm39)	T1456A	probably damaging	Het
Or14j10	G	T	17: 37,935,276 (GRCm39)	D83E	probably benign	Het
Or1o2	T	C	17: 37,542,871 (GRCm39)	Y130C	probably damaging	Het
Or51e1	T	A	7: 102,358,724 (GRCm39)	I86N	probably damaging	Het
Or52z1	T	A	7: 103,436,879 (GRCm39)	I202F	possibly damaging	Het
Or5g26	T	A	2: 85,494,524 (GRCm39)	M85L	probably benign	Het
Or8d1b	A	T	9: 38,887,500 (GRCm39)	H176L	probably damaging	Het
Pan3	G	A	5: 147,463,491 (GRCm39)		probably null	Het
Pcdhgb2	C	T	18: 37,824,068 (GRCm39)	T353I	probably damaging	Het
Pcif1	A	T	2: 164,730,284 (GRCm39)	H339L	probably damaging	Het
Pcif1	A	G	2: 164,731,550 (GRCm39)	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,225,284 (GRCm39)	H1740R	probably benign	Het
Polr1b	T	A	2: 128,967,583 (GRCm39)	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,763,691 (GRCm39)	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,509,116 (GRCm39)	F388L	probably damaging	Het
Ptpre	G	T	7: 135,139,803 (GRCm39)	R4L	unknown	Het
Pzp	G	T	6: 128,463,879 (GRCm39)	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,433,675 (GRCm39)	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,808,486 (GRCm39)	P481S	probably damaging	Het
Rgs9	T	A	11: 109,118,094 (GRCm39)	R579W	probably damaging	Het
Rhot1	T	C	11: 80,139,366 (GRCm39)		probably null	Het
Rnf123	T	A	9: 107,947,607 (GRCm39)		probably null	Het
Rreb1	T	G	13: 38,125,545 (GRCm39)	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,785,289 (GRCm39)	E400G	probably benign	Het
Rufy4	T	A	1: 74,168,493 (GRCm39)		probably null	Het
S100pbp	A	G	4: 129,075,878 (GRCm39)	L149P	probably damaging	Het
Sall3	T	C	18: 81,015,255 (GRCm39)	D891G	probably benign	Het
Scn10a	C	T	9: 119,467,618 (GRCm39)	V841I	probably benign	Het
Scn5a	T	A	9: 119,351,656 (GRCm39)	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,863,945 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,583 (GRCm39)	M108K	unknown	Het
Spata22	T	A	11: 73,226,816 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,208,633 (GRCm39)	H387R	probably damaging	Het
Stk4	A	G	2: 163,928,522 (GRCm39)	N118S	probably benign	Het
Stt3a	A	T	9: 36,659,266 (GRCm39)	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,814,391 (GRCm39)	F531I	probably damaging	Het
Tfrc	A	G	16: 32,437,867 (GRCm39)	T307A	probably damaging	Het
Tnpo2	T	C	8: 85,781,651 (GRCm39)	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,853 (GRCm39)	Y230C	probably damaging	Het
Ttll13	A	G	7: 79,910,182 (GRCm39)	D775G	probably benign	Het
Ttn	T	C	2: 76,775,273 (GRCm39)	K1969R	unknown	Het
Ube2s	G	A	7: 4,813,435 (GRCm39)	R110*	probably null	Het
Ubxn11	G	A	4: 133,853,540 (GRCm39)	R364Q	probably benign	Het
Unc13d	T	C	11: 115,958,697 (GRCm39)	Q773R	probably benign	Het
Ush2a	T	C	1: 188,285,308 (GRCm39)	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,776,931 (GRCm39)	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,273,297 (GRCm39)	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,533,580 (GRCm39)	S495T	probably benign	Het
Wiz	T	A	17: 32,598,049 (GRCm39)	I102F	probably benign	Het
Zan	A	C	5: 137,464,264 (GRCm39)	L514V	probably damaging	Het
Zfp106	T	A	2: 120,341,008 (GRCm39)	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,376,400 (GRCm39)		probably null	Het
Zfp738	T	C	13: 67,818,474 (GRCm39)	T506A	probably benign	Het
Zfp934	T	C	13: 62,666,517 (GRCm39)	N53S	probably benign	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
R4863:Fam193a	UTSW	5	34,623,549 (GRCm39)	missense	possibly damaging	0.86
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
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'- TCCTGCCACTCAAGTTATTTTCTTAA -3'
(R):5'- AGACTCCTAGAGCACCAGGG -3'

Sequencing Primer
(F):5'- ACGGGTATTTTTAGAGATGTATTCTG -3'
(R):5'- GCAGGCATGTCAAGCAGC -3'

Posted On

2019-10-07