Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Fam193a'

194356

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

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

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34462131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 760 (P760L)

Ref Sequence

ENSEMBL: ENSMUSP00000092463 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094867
AA Change: P760L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: P760L

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: P1046L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: P1046L

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

probably benign
Transcript: ENSMUST00000201005

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	C	X: 112,241,085 (GRCm38)	Y22H	probably benign	Het
Afg1l	T	C	10: 42,454,495 (GRCm38)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,264,797 (GRCm38)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,638,638 (GRCm38)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,625,590 (GRCm38)	I131T	probably damaging	Het
Arhgef10	A	T	8: 14,979,836 (GRCm38)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,069,837 (GRCm38)	V43A	probably benign	Het
BC051665	G	A	13: 60,785,040 (GRCm38)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,306 (GRCm38)	D69G	probably damaging	Het
Chd6	G	A	2: 160,966,639 (GRCm38)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,737,441 (GRCm38)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,693,972 (GRCm38)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm38)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm38)		probably null	Het
Ehbp1l1	A	G	19: 5,716,406 (GRCm38)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,786,891 (GRCm38)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,835,886 (GRCm38)	Q226L	possibly damaging	Het
Gabra5	A	T	7: 57,508,048 (GRCm38)	L6H	probably benign	Het
Gabrq	G	A	X: 72,833,383 (GRCm38)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm7334	T	A	17: 50,698,978 (GRCm38)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,325,383 (GRCm38)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,204,329 (GRCm38)	Y79*	probably null	Het
Hcn1	T	A	13: 117,656,734 (GRCm38)	V174D	probably benign	Het
Hic1	G	T	11: 75,165,794 (GRCm38)	C756*	probably null	Het
Hivep3	C	T	4: 120,096,671 (GRCm38)	T728I	probably benign	Het
Ice1	T	C	13: 70,604,442 (GRCm38)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,431,282 (GRCm38)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,657,442 (GRCm38)	D90G	probably benign	Het
Krt73	C	T	15: 101,793,928 (GRCm38)	G500D	probably damaging	Het
Lama3	A	G	18: 12,402,062 (GRCm38)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,696,022 (GRCm38)	K94E	probably damaging	Het
Mitf	T	C	6: 97,941,099 (GRCm38)	S26P	probably damaging	Het
Myh4	C	A	11: 67,256,295 (GRCm38)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,073,114 (GRCm38)	V671E	probably benign	Het
Nop9	C	T	14: 55,752,134 (GRCm38)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,335,042 (GRCm38)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,778,518 (GRCm38)	C766S	probably damaging	Het
Olfr625-ps1	A	G	7: 103,682,861 (GRCm38)	N38D	possibly damaging	Het
Oog3	C	T	4: 144,159,122 (GRCm38)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,346,220 (GRCm38)	Y43C	probably damaging	Het
Or6c38	T	C	10: 129,093,747 (GRCm38)	I76V	probably benign	Het
Or7g27	A	G	9: 19,338,858 (GRCm38)	T133A	probably benign	Het
Pdzph1	C	T	17: 58,973,752 (GRCm38)	V512I	probably benign	Het
Phf2	A	C	13: 48,819,557 (GRCm38)	S408A	unknown	Het
Pigk	T	G	3: 152,740,156 (GRCm38)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,121,946 (GRCm38)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,058,482 (GRCm38)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 101,050,122 (GRCm38)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,092,703 (GRCm38)	D579E	probably damaging	Het
Rims2	T	A	15: 39,462,580 (GRCm38)	D769E	probably damaging	Het
Rptor	T	A	11: 119,725,061 (GRCm38)	C134S	probably damaging	Het
S100a1	A	G	3: 90,511,292 (GRCm38)	F72L	probably damaging	Het
Scube1	T	A	15: 83,721,945 (GRCm38)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,712,685 (GRCm38)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,250 (GRCm38)	T397A	probably benign	Het
Siglece	G	A	7: 43,651,532 (GRCm38)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,671,792 (GRCm38)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,787,212 (GRCm38)	V156A	probably benign	Het
Smchd1	A	T	17: 71,391,379 (GRCm38)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 45,770,576 (GRCm38)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,603,875 (GRCm38)	W326C	possibly damaging	Het
Taf2	A	G	15: 55,071,397 (GRCm38)	V45A	probably benign	Het
Tiparp	A	T	3: 65,532,049 (GRCm38)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,541,699 (GRCm38)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,839,170 (GRCm38)	V338D	probably damaging	Het
Trdn	A	G	10: 33,364,008 (GRCm38)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm38)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,815,020 (GRCm38)	S550T	probably benign	Het
Tufm	A	G	7: 126,490,472 (GRCm38)	D446G	probably benign	Het
Vipr1	A	T	9: 121,661,419 (GRCm38)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,401,766 (GRCm38)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,092,044 (GRCm38)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,023,943 (GRCm38)		probably null	Het
Ywhae	T	C	11: 75,755,665 (GRCm38)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,280,524 (GRCm38)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,278,532 (GRCm38)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,973,637 (GRCm38)	D137G	probably benign	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
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
R4863:Fam193a	UTSW	5	34,466,205 (GRCm38)	missense	possibly damaging	0.86
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'- TCAGAAGAGTCCTGTGTCCATCCAG -3'
(R):5'- GGTATCATGCACTTACCCCGCC -3'

Sequencing Primer
(F):5'- GATGGCACACGATTCTCTGAC -3'
(R):5'- TTACCCCGCCATGTCCAAAG -3'

Posted On

2014-05-23