Mutagenetix > Incidental Mutation

Incidental Mutation 'R0413:Fam193a'

36779

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

MMRRC Submission

038615-MU

Accession Numbers

Essential gene?

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

Stock #

R0413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34623552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 27 (V27A)

Ref Sequence

ENSEMBL: ENSMUSP00000137979 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000094867
AA Change: V1094A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: V1094A

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: V1380A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: V1380A

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: V27A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
AA Change: V27A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201811

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (99/100)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,158,355 (GRCm39)		probably benign	Het
Adh1	C	T	3: 137,986,193 (GRCm39)	T60I	probably benign	Het
Agtpbp1	T	A	13: 59,661,966 (GRCm39)	I282F	probably damaging	Het
Arih2	G	T	9: 108,493,916 (GRCm39)	Q166K	probably damaging	Het
Cacna1s	A	G	1: 136,025,947 (GRCm39)	T1031A	probably benign	Het
Ccdc102a	C	A	8: 95,629,914 (GRCm39)	E542D	probably benign	Het
Cdk1	T	C	10: 69,180,929 (GRCm39)	I94V	probably benign	Het
Cep290	C	T	10: 100,359,176 (GRCm39)	Q969*	probably null	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Col12a1	T	C	9: 79,606,642 (GRCm39)	T594A	probably damaging	Het
Cpox	A	G	16: 58,491,232 (GRCm39)	T148A	possibly damaging	Het
Csf3r	A	G	4: 125,933,460 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,760,530 (GRCm39)	C202S	probably damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dnah9	T	A	11: 65,998,961 (GRCm39)	Y1029F	probably damaging	Het
Dok5	T	C	2: 170,671,880 (GRCm39)		probably benign	Het
Dusp11	A	T	6: 85,929,352 (GRCm39)		probably benign	Het
Edar	T	C	10: 58,465,262 (GRCm39)	N34D	probably benign	Het
Efcab7	C	T	4: 99,766,943 (GRCm39)	T56I	probably damaging	Het
Entpd1	G	A	19: 40,699,729 (GRCm39)	V47I	probably benign	Het
Ephx4	A	G	5: 107,551,601 (GRCm39)	N62S	probably benign	Het
Etaa1	A	T	11: 17,896,350 (GRCm39)	L589*	probably null	Het
Fam135b	T	A	15: 71,335,670 (GRCm39)	N508I	probably benign	Het
Fmnl1	A	G	11: 103,084,889 (GRCm39)		probably benign	Het
Fstl1	A	C	16: 37,641,516 (GRCm39)		probably null	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Gemin4	T	C	11: 76,102,148 (GRCm39)	Y871C	probably benign	Het
Get1	T	G	16: 95,954,217 (GRCm39)	S105R	probably benign	Het
Gm7247	T	C	14: 51,760,929 (GRCm39)	V166A	probably benign	Het
Gpcpd1	A	T	2: 132,406,543 (GRCm39)		probably benign	Het
Gpnmb	A	G	6: 49,019,737 (GRCm39)	D36G	probably benign	Het
Ido2	C	T	8: 25,048,159 (GRCm39)		probably null	Het
Igfn1	G	A	1: 135,895,334 (GRCm39)	T1744I	probably benign	Het
Inf2	T	G	12: 112,568,110 (GRCm39)	F221V	probably damaging	Het
Itga10	T	A	3: 96,556,375 (GRCm39)	I170N	probably damaging	Het
Lrp6	A	T	6: 134,484,587 (GRCm39)	D345E	probably damaging	Het
Macf1	A	T	4: 123,366,062 (GRCm39)	S2900T	probably benign	Het
Med13	C	A	11: 86,190,033 (GRCm39)		probably benign	Het
Morc3	T	C	16: 93,667,362 (GRCm39)	V507A	probably damaging	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Myl6	C	T	10: 128,328,091 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,742,314 (GRCm39)	V942A	probably benign	Het
Myorg	G	T	4: 41,498,585 (GRCm39)	H348Q	probably benign	Het
Ncdn	G	T	4: 126,644,327 (GRCm39)	T165K	possibly damaging	Het
Ncf1	T	C	5: 134,251,656 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,180,751 (GRCm39)		probably benign	Het
Nid1	T	A	13: 13,656,681 (GRCm39)	I604N	probably benign	Het
Nsrp1	T	C	11: 76,936,997 (GRCm39)	R400G	probably benign	Het
Nup43	T	G	10: 7,546,791 (GRCm39)	I137S	probably benign	Het
Nynrin	A	G	14: 56,109,648 (GRCm39)	N1585S	possibly damaging	Het
Obscn	T	A	11: 58,893,823 (GRCm39)	Y6748F	probably benign	Het
Omg	A	G	11: 79,393,661 (GRCm39)	S66P	possibly damaging	Het
Or13a27	A	T	7: 139,925,108 (GRCm39)	S265T	possibly damaging	Het
Or2y1d	T	C	11: 49,322,212 (GRCm39)	V303A	possibly damaging	Het
Or4c15	A	G	2: 88,759,906 (GRCm39)	V251A	probably benign	Het
Or51b6b	A	T	7: 103,309,957 (GRCm39)	F167I	possibly damaging	Het
Or52z1	A	G	7: 103,437,362 (GRCm39)	Y41H	probably damaging	Het
Or5ak22	T	C	2: 85,230,019 (GRCm39)	N286S	probably damaging	Het
Or8g27	A	G	9: 39,129,566 (GRCm39)	I304M	probably benign	Het
Or8k24	G	A	2: 86,216,058 (GRCm39)	R235C	probably benign	Het
Ormdl1	C	T	1: 53,347,978 (GRCm39)		probably benign	Het
Ovch2	T	A	7: 107,381,243 (GRCm39)	I552L	probably benign	Het
Pcare	T	G	17: 72,059,212 (GRCm39)	D155A	probably benign	Het
Pcsk9	G	T	4: 106,311,538 (GRCm39)	T231N	probably damaging	Het
Pgpep1	T	C	8: 71,110,100 (GRCm39)	N22S	probably damaging	Het
Plb1	T	C	5: 32,512,706 (GRCm39)	F1355L	probably damaging	Het
Plcg1	G	T	2: 160,603,349 (GRCm39)	L1173F	probably damaging	Het
Plch2	A	T	4: 155,091,373 (GRCm39)		probably null	Het
Ppp1r3g	T	A	13: 36,153,331 (GRCm39)	F250L	probably damaging	Het
Prkcg	A	G	7: 3,368,095 (GRCm39)	I381V	probably benign	Het
Pum2	C	T	12: 8,763,464 (GRCm39)	A207V	probably benign	Het
Rabac1	T	C	7: 24,669,607 (GRCm39)	E166G	probably damaging	Het
Rad21l	G	A	2: 151,493,851 (GRCm39)	S450L	probably benign	Het
Rangap1	ACACTCA	ACA	15: 81,600,876 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,348,824 (GRCm39)	C40F	probably damaging	Het
Rfx2	A	G	17: 57,091,418 (GRCm39)		probably benign	Het
Rrp15	G	A	1: 186,481,346 (GRCm39)		probably benign	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sec61a2	A	T	2: 5,881,165 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,669,590 (GRCm39)	K705E	probably damaging	Het
Setx	A	G	2: 29,029,290 (GRCm39)	Y186C	probably damaging	Het
Slc22a23	T	C	13: 34,367,115 (GRCm39)	E631G	probably damaging	Het
Slc5a5	T	C	8: 71,344,319 (GRCm39)	T134A	possibly damaging	Het
Stx7	T	C	10: 24,057,492 (GRCm39)	S173P	probably damaging	Het
Sybu	T	C	15: 44,536,668 (GRCm39)	T353A	probably damaging	Het
Syde2	T	A	3: 145,712,887 (GRCm39)	N1008K	probably damaging	Het
Tiam1	T	C	16: 89,606,253 (GRCm39)		probably benign	Het
Timm10b	G	A	7: 105,327,537 (GRCm39)	E61K	probably benign	Het
Tm2d1	A	G	4: 98,253,810 (GRCm39)	I121T	probably damaging	Het
Trim75	T	C	8: 65,435,892 (GRCm39)	E186G	probably benign	Het
Tti1	T	C	2: 157,837,396 (GRCm39)	K895E	probably benign	Het
Vmn1r43	A	G	6: 89,846,830 (GRCm39)	S219P	probably damaging	Het
Vmn2r73	A	T	7: 85,521,087 (GRCm39)	S294T	possibly damaging	Het
Vmn2r94	A	T	17: 18,464,080 (GRCm39)	F737I	probably damaging	Het
Vsx2	A	T	12: 84,616,777 (GRCm39)	T21S	probably benign	Het
Zfp462	G	T	4: 55,010,534 (GRCm39)	R833S	probably damaging	Het
Zfpl1	G	A	19: 6,132,482 (GRCm39)	P143L	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
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
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'- TCGGCCAAGTAAAGACTGTTCCAAG -3'
(R):5'- CCAAGTGAACTGCTGGTTCTGTCTC -3'

Sequencing Primer
(F):5'- AGCTTCTGCTACCTAAGGAAGTC -3'
(R):5'- CCTTGGGCTGAGGAGAACTG -3'

Posted On

2013-05-09