Mutagenetix > Incidental Mutation

Incidental Mutation 'R7690:Fam171a2'

593348

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

MMRRC Submission

045754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7690 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

102327807-102338508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102328660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 700 (P700S)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]

AlphaFold

A2A699

Predicted Effect

probably benign
Transcript: ENSMUST00000049057
AA Change: P700S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: P700S

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPF0560	41	820	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049460

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
GRAN	74	125	1.32e-22	SMART
GRAN	138	190	7.38e-26	SMART
GRAN	220	272	5.76e-28	SMART
GRAN	295	346	1.19e-29	SMART
GRAN	377	427	1.84e-26	SMART
GRAN	455	506	7.1e-28	SMART
GRAN	530	581	1.48e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125819

SMART Domains

Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	42	72	5.03e-4	SMART
GRAN	100	151	7.1e-28	SMART
GRAN	175	226	1.48e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129997

SMART Domains

Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GRAN	61	112	1.32e-22	SMART
GRAN	125	177	7.38e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177428

SMART Domains

Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	1	49	8.68e-23	SMART
GRAN	77	128	7.1e-28	SMART
GRAN	152	180	3.98e-2	SMART
low complexity region	244	259	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,353,313 (GRCm39)	T710S	probably benign	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Agap1	T	C	1: 89,770,793 (GRCm39)	S648P	probably benign	Het
Alox5	T	C	6: 116,392,417 (GRCm39)	H368R	probably damaging	Het
Ano2	T	C	6: 125,990,161 (GRCm39)	F761L	probably damaging	Het
Aox4	T	C	1: 58,303,076 (GRCm39)	V1169A	probably damaging	Het
Apbb1ip	T	A	2: 22,706,996 (GRCm39)	M11K	unknown	Het
Arl5a	G	T	2: 52,302,077 (GRCm39)	H112Q	possibly damaging	Het
Ccdc18	C	T	5: 108,376,528 (GRCm39)	T1323I	probably benign	Het
Cmtm5	G	A	14: 55,173,938 (GRCm39)		probably benign	Het
Cul2	T	C	18: 3,419,420 (GRCm39)	Y194H	probably benign	Het
Daglb	T	C	5: 143,479,938 (GRCm39)	I415T	possibly damaging	Het
Ddx28	A	G	8: 106,736,963 (GRCm39)	V365A	probably damaging	Het
Dnah6	T	C	6: 73,146,063 (GRCm39)		probably null	Het
Eppk1	T	A	15: 75,995,946 (GRCm39)	T312S	probably benign	Het
Erich4	C	A	7: 25,314,710 (GRCm39)	V68L	possibly damaging	Het
Fat3	T	C	9: 15,909,477 (GRCm39)	N2175S	probably damaging	Het
Fcrl6	T	G	1: 172,426,223 (GRCm39)	R191S	probably damaging	Het
Fpgt	A	G	3: 154,793,467 (GRCm39)	S187P	probably damaging	Het
Gapvd1	T	G	2: 34,619,134 (GRCm39)	T80P	possibly damaging	Het
Gclm	A	G	3: 122,039,705 (GRCm39)	N24S	probably damaging	Het
Gdf15	A	G	8: 71,083,997 (GRCm39)	I89T	possibly damaging	Het
Gpn2	A	G	4: 133,318,693 (GRCm39)	E306G	probably damaging	Het
Iars2	A	T	1: 185,053,194 (GRCm39)	L359Q	probably damaging	Het
Kbtbd4	T	G	2: 90,736,240 (GRCm39)	C84G	possibly damaging	Het
Manea	A	G	4: 26,327,910 (GRCm39)	V377A	probably benign	Het
Map4	C	T	9: 109,828,861 (GRCm39)	T82I	probably damaging	Het
Mocos	C	T	18: 24,797,082 (GRCm39)	H81Y	probably damaging	Het
Mtx1	T	A	3: 89,120,088 (GRCm39)	T87S		Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myom2	A	T	8: 15,161,717 (GRCm39)		probably null	Het
Mzt1	C	T	14: 99,278,024 (GRCm39)	C48Y	probably damaging	Het
Nlrp9b	C	A	7: 19,758,295 (GRCm39)	P511T	probably benign	Het
Noc2l	A	G	4: 156,322,088 (GRCm39)	E135G	probably benign	Het
Nova1	G	A	12: 46,767,549 (GRCm39)	P124L	unknown	Het
Pax8	T	A	2: 24,331,682 (GRCm39)	T134S	probably benign	Het
Pde4a	T	A	9: 21,077,300 (GRCm39)	L26Q	probably damaging	Het
Pde6b	G	A	5: 108,567,384 (GRCm39)	E254K	probably damaging	Het
Pdlim7	A	G	13: 55,656,744 (GRCm39)	I70T	probably damaging	Het
Pinx1	T	A	14: 64,101,660 (GRCm39)		probably null	Het
Pomt2	C	A	12: 87,177,141 (GRCm39)	R352L	probably damaging	Het
Rapgef5	G	A	12: 117,685,105 (GRCm39)	V519I	possibly damaging	Het
Rnps1	A	G	17: 24,637,168 (GRCm39)	E16G	unknown	Het
Slc4a5	T	C	6: 83,262,854 (GRCm39)	F782S	probably damaging	Het
Snap91	A	G	9: 86,707,031 (GRCm39)	V253A	possibly damaging	Het
Syce3	T	C	15: 89,281,544 (GRCm39)	M32V	possibly damaging	Het
Tcaf3	C	A	6: 42,574,069 (GRCm39)	V48L	probably damaging	Het
Tenm4	T	C	7: 96,512,740 (GRCm39)	V1366A	probably benign	Het
Tnxb	G	A	17: 34,908,494 (GRCm39)	M1382I	probably benign	Het
Tnxb	G	A	17: 34,908,501 (GRCm39)	G1385R	probably damaging	Het
Top3a	G	T	11: 60,647,206 (GRCm39)	L238I	probably damaging	Het
Trim9	A	T	12: 70,295,117 (GRCm39)	N742K	probably benign	Het
Trp63	T	A	16: 25,695,483 (GRCm39)	Y482N	unknown	Het
Ttc23	T	G	7: 67,319,918 (GRCm39)	F192V	possibly damaging	Het
Uck1	A	G	2: 32,148,184 (GRCm39)	V180A	probably benign	Het
Vwa5b1	G	A	4: 138,318,244 (GRCm39)	T541I	probably damaging	Het
Zfp456	G	T	13: 67,514,913 (GRCm39)	H264Q	probably damaging	Het
Zfpm2	T	G	15: 40,818,162 (GRCm39)	V165G	possibly damaging	Het
Zup1	C	T	10: 33,806,151 (GRCm39)		probably null	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102,328,674 (GRCm39)	missense	possibly damaging	0.92
IGL01898:Fam171a2	APN	11	102,330,582 (GRCm39)	missense	possibly damaging	0.88
IGL02477:Fam171a2	APN	11	102,330,854 (GRCm39)	missense	probably benign	0.00
IGL03272:Fam171a2	APN	11	102,334,944 (GRCm39)	missense	possibly damaging	0.58
R0102:Fam171a2	UTSW	11	102,334,939 (GRCm39)	missense	possibly damaging	0.88
R0102:Fam171a2	UTSW	11	102,334,939 (GRCm39)	missense	possibly damaging	0.88
R0632:Fam171a2	UTSW	11	102,328,707 (GRCm39)	missense	probably damaging	0.99
R0733:Fam171a2	UTSW	11	102,330,548 (GRCm39)	missense	possibly damaging	0.83
R1005:Fam171a2	UTSW	11	102,331,007 (GRCm39)	missense	probably benign	0.05
R1323:Fam171a2	UTSW	11	102,334,951 (GRCm39)	missense	probably damaging	0.99
R1323:Fam171a2	UTSW	11	102,334,951 (GRCm39)	missense	probably damaging	0.99
R2425:Fam171a2	UTSW	11	102,329,187 (GRCm39)	missense	possibly damaging	0.88
R4838:Fam171a2	UTSW	11	102,329,511 (GRCm39)	missense	possibly damaging	0.88
R4858:Fam171a2	UTSW	11	102,330,982 (GRCm39)	missense	probably damaging	1.00
R5119:Fam171a2	UTSW	11	102,329,559 (GRCm39)	missense	probably damaging	0.97
R5384:Fam171a2	UTSW	11	102,328,693 (GRCm39)	missense	possibly damaging	0.51
R5386:Fam171a2	UTSW	11	102,328,693 (GRCm39)	missense	possibly damaging	0.51
R5408:Fam171a2	UTSW	11	102,328,344 (GRCm39)	missense	possibly damaging	0.71
R5457:Fam171a2	UTSW	11	102,328,362 (GRCm39)	missense	possibly damaging	0.92
R5732:Fam171a2	UTSW	11	102,330,807 (GRCm39)	missense	possibly damaging	0.94
R6466:Fam171a2	UTSW	11	102,330,711 (GRCm39)	missense	probably damaging	1.00
R6931:Fam171a2	UTSW	11	102,329,260 (GRCm39)	missense	possibly damaging	0.95
R7196:Fam171a2	UTSW	11	102,329,172 (GRCm39)	missense	probably benign	0.04
R7261:Fam171a2	UTSW	11	102,328,900 (GRCm39)	missense	probably damaging	0.98
R7295:Fam171a2	UTSW	11	102,329,064 (GRCm39)	missense	possibly damaging	0.85
R7419:Fam171a2	UTSW	11	102,329,628 (GRCm39)	missense	possibly damaging	0.95
R7422:Fam171a2	UTSW	11	102,329,491 (GRCm39)	missense	probably benign	0.29
R7454:Fam171a2	UTSW	11	102,330,543 (GRCm39)	missense	possibly damaging	0.88
R7606:Fam171a2	UTSW	11	102,335,002 (GRCm39)	missense	possibly damaging	0.75
R7754:Fam171a2	UTSW	11	102,329,389 (GRCm39)	missense	probably benign	0.00
R7970:Fam171a2	UTSW	11	102,328,692 (GRCm39)	missense	possibly damaging	0.93
R8060:Fam171a2	UTSW	11	102,329,436 (GRCm39)	missense	possibly damaging	0.88
R8338:Fam171a2	UTSW	11	102,329,172 (GRCm39)	missense	probably benign	0.10
R8924:Fam171a2	UTSW	11	102,330,861 (GRCm39)	missense	possibly damaging	0.94
R8976:Fam171a2	UTSW	11	102,329,451 (GRCm39)	missense	possibly damaging	0.46
R9116:Fam171a2	UTSW	11	102,330,519 (GRCm39)	missense	probably damaging	0.98
R9155:Fam171a2	UTSW	11	102,329,497 (GRCm39)	missense	probably benign	0.28
R9346:Fam171a2	UTSW	11	102,328,771 (GRCm39)	missense	possibly damaging	0.87
Z1176:Fam171a2	UTSW	11	102,338,272 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTGAACACCATTAGCGGCC -3'
(R):5'- CTAACCGAGAAGAAGCTGCTGG -3'

Sequencing Primer
(F):5'- GGGCTCTTCTTGTCGCCAG -3'
(R):5'- CTGGAACTGGGAGTGAAGCCTC -3'

Posted On

2019-11-12