Mutagenetix > Incidental Mutation

Incidental Mutation 'R8338:Fam171a2'

644759

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

MMRRC Submission

067730-MU

Accession Numbers

Essential gene?

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

Stock #

R8338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102327807-102338508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102329172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 529 (D529V)

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: D529V

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: D529V

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,290,006 (GRCm39)	L445P	probably damaging	Het
Agrn	G	A	4: 156,253,018 (GRCm39)	T1773I	probably benign	Het
Arap3	A	G	18: 38,106,683 (GRCm39)	S1387P	probably damaging	Het
Bcl11a	G	C	11: 24,114,578 (GRCm39)	K640N	probably damaging	Het
Bicd1	G	A	6: 149,414,621 (GRCm39)	V445I	probably benign	Het
Bltp3a	A	G	17: 28,095,669 (GRCm39)	N26S	probably damaging	Het
C2cd6	A	C	1: 59,099,734 (GRCm39)	N402K	probably benign	Het
Celsr3	C	T	9: 108,704,539 (GRCm39)	Q341*	probably null	Het
Cers1	A	G	8: 70,783,772 (GRCm39)	E240G	possibly damaging	Het
Cfap157	G	T	2: 32,668,018 (GRCm39)	T441N	possibly damaging	Het
Cfap44	G	A	16: 44,239,698 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,242 (GRCm39)	Y1598C	probably damaging	Het
Ckap2l	T	G	2: 129,126,939 (GRCm39)	Q413P	probably damaging	Het
Cobl	T	C	11: 12,203,696 (GRCm39)	E1002G	probably benign	Het
Cryge	G	A	1: 65,087,933 (GRCm39)	T156M	unknown	Het
Cubn	A	C	2: 13,435,658 (GRCm39)	F1099L	probably benign	Het
Cyp7b1	T	C	3: 18,151,730 (GRCm39)	E161G	probably benign	Het
Dnah10	A	G	5: 124,909,566 (GRCm39)	E4452G	probably damaging	Het
Dnah2	C	T	11: 69,378,122 (GRCm39)	R1273Q	probably damaging	Het
Dnah3	T	C	7: 119,671,104 (GRCm39)	E593G	probably benign	Het
Dnah9	C	A	11: 65,732,067 (GRCm39)		probably null	Het
Dnajc22	C	A	15: 98,999,022 (GRCm39)	P69Q	probably benign	Het
Fbxl17	T	C	17: 63,663,753 (GRCm39)	I579V	possibly damaging	Het
Fry	C	T	5: 150,282,516 (GRCm39)	T347M	probably damaging	Het
Gm13272	A	C	4: 88,698,364 (GRCm39)	D93A	probably benign	Het
Grm4	A	T	17: 27,653,977 (GRCm39)	F658I	probably damaging	Het
Hmcn1	G	A	1: 150,614,485 (GRCm39)	T1307I	probably benign	Het
Igkv12-98	G	A	6: 68,548,159 (GRCm39)	S96N	probably benign	Het
Il2ra	A	T	2: 11,687,885 (GRCm39)	T222S	probably benign	Het
Il5ra	G	T	6: 106,689,350 (GRCm39)	T414K	probably benign	Het
Isg15	T	A	4: 156,284,088 (GRCm39)	I147F	probably benign	Het
Kif14	C	A	1: 136,422,416 (GRCm39)	A902E	probably damaging	Het
Lcat	G	A	8: 106,666,719 (GRCm39)	R268C	probably damaging	Het
Lipa	T	C	19: 34,471,477 (GRCm39)	N366S	probably benign	Het
Lrp4	A	G	2: 91,322,713 (GRCm39)	T1101A	probably benign	Het
Man1a	T	A	10: 53,801,643 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,726,372 (GRCm39)	D23G	probably benign	Het
Morc2b	A	T	17: 33,355,387 (GRCm39)	M795K	probably benign	Het
Msantd5f1	T	A	4: 73,605,435 (GRCm39)	M282K	possibly damaging	Het
Mycbp2	T	A	14: 103,372,701 (GRCm39)	E4048D	probably damaging	Het
Myo7b	A	G	18: 32,104,408 (GRCm39)	S1447P	probably damaging	Het
Myt1	A	T	2: 181,443,655 (GRCm39)	T536S	possibly damaging	Het
Nod1	A	T	6: 54,920,956 (GRCm39)	L454Q	probably damaging	Het
Nrf1	T	A	6: 30,140,247 (GRCm39)	W199R		Het
Or10w1	T	A	19: 13,632,216 (GRCm39)	M141K	possibly damaging	Het
Or13a27	T	A	7: 139,925,306 (GRCm39)	M199L	probably benign	Het
Or14c44	T	C	7: 86,061,702 (GRCm39)	I44T	probably benign	Het
Or8k27	A	T	2: 86,275,729 (GRCm39)	M199K	probably benign	Het
Or9a4	T	C	6: 40,548,910 (GRCm39)	F197L	probably benign	Het
Ostn	G	T	16: 27,143,285 (GRCm39)	A38S	probably benign	Het
Paxbp1	A	T	16: 90,833,435 (GRCm39)	D266E	probably damaging	Het
Pcdhb14	G	T	18: 37,582,175 (GRCm39)	G427V	probably damaging	Het
Pdzrn3	A	T	6: 101,127,783 (GRCm39)	M961K	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,884,632 (GRCm39)	D148G	probably damaging	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rccd1	A	T	7: 79,970,618 (GRCm39)	L54Q	possibly damaging	Het
Rfx6	T	A	10: 51,594,190 (GRCm39)	V370E	probably damaging	Het
Sdr16c6	C	T	4: 4,076,620 (GRCm39)	C93Y	probably damaging	Het
Shroom1	A	G	11: 53,354,107 (GRCm39)	D9G	probably benign	Het
Snrpe	A	G	1: 133,536,681 (GRCm39)	V33A	probably benign	Het
Spats2	T	A	15: 99,076,340 (GRCm39)	D139E	probably damaging	Het
Spopfm1	A	G	3: 94,173,285 (GRCm39)	I94V	possibly damaging	Het
St18	A	G	1: 6,879,516 (GRCm39)	E405G	probably damaging	Het
Strap	A	T	6: 137,718,976 (GRCm39)	E176V	possibly damaging	Het
Stxbp5l	G	T	16: 36,994,718 (GRCm39)	T729K	probably damaging	Het
Synj2bp	G	A	12: 81,551,326 (GRCm39)	Q97*	probably null	Het
Tbc1d32	T	A	10: 55,904,173 (GRCm39)	Q1198L	possibly damaging	Het
Tmem98	T	C	11: 80,712,135 (GRCm39)	S191P	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Treh	A	G	9: 44,595,808 (GRCm39)	N366S	probably benign	Het
Ttn	T	G	2: 76,750,136 (GRCm39)	S3638R	probably benign	Het
Uggt1	A	G	1: 36,266,602 (GRCm39)	L124P	probably damaging	Het
V1rd19	A	T	7: 23,702,674 (GRCm39)	K47*	probably null	Het
Wdhd1	T	C	14: 47,506,120 (GRCm39)	M265V	probably benign	Het
Wsb1	T	C	11: 79,137,103 (GRCm39)	D168G	probably damaging	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
R7690:Fam171a2	UTSW	11	102,328,660 (GRCm39)	missense	probably benign	0.04
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
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'- GTTGAACAGCACCGGAATGG -3'
(R):5'- GACTTCTTCCGTGCCAAACC -3'

Sequencing Primer
(F):5'- AATGGTGACCGAGCCGCTG -3'
(R):5'- AGCCTGGACGAATACCGG -3'

Posted On

2020-09-02