Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Fam193a'

250641

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

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

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34623102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1230 (K1230M)

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: K944M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: K944M

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: K1230M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: K1230M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201811

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Ano6	A	T	15: 95,863,855 (GRCm39)	T792S	probably benign	Het
Atm	A	T	9: 53,421,566 (GRCm39)	V715D	probably damaging	Het
Avl9	A	G	6: 56,713,828 (GRCm39)	D362G	probably benign	Het
Bin1	T	A	18: 32,547,280 (GRCm39)	S152R	probably damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Btrc	A	G	19: 45,504,497 (GRCm39)	D397G	probably damaging	Het
Cables2	A	T	2: 179,902,222 (GRCm39)	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,389,221 (GRCm39)	L228P	probably damaging	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cdh26	A	T	2: 178,108,382 (GRCm39)	S327C	probably damaging	Het
Cep78	T	C	19: 15,938,344 (GRCm39)	K535E	probably damaging	Het
Ces1a	A	G	8: 93,753,969 (GRCm39)	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,741,347 (GRCm39)	R2524I	probably damaging	Het
Cracd	A	T	5: 77,004,256 (GRCm39)	I206F	probably damaging	Het
Dctn1	G	A	6: 83,171,169 (GRCm39)	R661H	probably damaging	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Emx1	T	C	6: 85,165,237 (GRCm39)	S105P	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Fgf9	A	G	14: 58,347,028 (GRCm39)	Q207R	probably benign	Het
Gm5460	G	A	14: 33,767,775 (GRCm39)	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,783,660 (GRCm39)	I249T	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igfn1	T	C	1: 135,897,275 (GRCm39)	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,161,245 (GRCm39)	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,076,710 (GRCm39)	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,357,758 (GRCm39)	C94G	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Myh1	A	T	11: 67,102,052 (GRCm39)	M811L	probably benign	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,755,565 (GRCm39)	T979A	probably benign	Het
Myo18b	A	T	5: 113,006,274 (GRCm39)	C879S	probably damaging	Het
Myom1	A	G	17: 71,384,807 (GRCm39)	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,215,542 (GRCm39)	C74R	possibly damaging	Het
Obscn	A	G	11: 58,970,972 (GRCm39)	F2514L	probably damaging	Het
Or4a69	G	A	2: 89,313,471 (GRCm39)	Q3*	probably null	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p81	CAAATA	CA	7: 108,266,869 (GRCm39)		probably null	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcdha5	G	T	18: 37,094,542 (GRCm39)	M350I	probably benign	Het
Pcdha5	G	A	18: 37,094,834 (GRCm39)	V448M	probably damaging	Het
Pex12	C	T	11: 83,188,455 (GRCm39)	R180H	possibly damaging	Het
Pip4p1	C	G	14: 51,167,749 (GRCm39)	V59L	probably damaging	Het
Pkd1l1	A	T	11: 8,912,701 (GRCm39)	V168E	probably damaging	Het
Prokr2	T	A	2: 132,223,095 (GRCm39)	D149V	probably damaging	Het
Rnf123	A	G	9: 107,940,720 (GRCm39)	V707A	probably benign	Het
Ryr2	T	C	13: 11,774,589 (GRCm39)	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,406,117 (GRCm39)	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,309,260 (GRCm39)		probably null	Het
Shfl	A	T	9: 20,784,473 (GRCm39)	I186F	possibly damaging	Het
Skic3	A	G	13: 76,330,986 (GRCm39)	E1472G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Snapc1	A	G	12: 74,011,417 (GRCm39)	T28A	probably benign	Het
Soat1	T	C	1: 156,258,669 (GRCm39)	Y528C	probably damaging	Het
Spem1	G	A	11: 69,712,344 (GRCm39)	R107C	possibly damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,016,388 (GRCm39)	N691K	probably damaging	Het
Syne2	A	T	12: 76,142,311 (GRCm39)	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tenm3	G	A	8: 48,693,305 (GRCm39)	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,030,809 (GRCm39)	V1048D	probably damaging	Het
Vav3	T	C	3: 109,248,482 (GRCm39)	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Wwp2	A	G	8: 108,275,167 (GRCm39)	D388G	probably damaging	Het
Xirp2	A	T	2: 67,355,336 (GRCm39)	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,360,701 (GRCm39)		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
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
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'- TTGTTATTGGCAGCTGGAAGAGAAG -3'
(R):5'- TGTAGCATCCCCATTGGCTC -3'

Sequencing Primer
(F):5'- AGGCACGCCTAGAAGCTG -3'
(R):5'- ATCCCCATTGGCTCCAGGC -3'

Posted On

2014-12-04