Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Fam171a2'

695326

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

MMRRC Submission

068941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102327807-102338508 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102329497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 421 (S421T)

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: S421T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: S421T

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,691,811 (GRCm39)	E34G	probably damaging	Het
Aldh1a3	A	T	7: 66,058,867 (GRCm39)	L157*	probably null	Het
Asic2	T	A	11: 80,784,872 (GRCm39)	T356S	probably benign	Het
Ate1	T	C	7: 129,996,463 (GRCm39)	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,350,423 (GRCm39)	Q474L		Het
Calhm6	T	C	10: 34,002,363 (GRCm39)	E240G	probably damaging	Het
Carf	C	A	1: 60,189,842 (GRCm39)	T689K	possibly damaging	Het
Carmil2	A	G	8: 106,412,922 (GRCm39)	D6G	probably benign	Het
Ccnd2	A	C	6: 127,127,663 (GRCm39)	V25G	probably damaging	Het
Ccnk	T	A	12: 108,159,978 (GRCm39)	F153L	probably damaging	Het
Cdh23	C	T	10: 60,249,485 (GRCm39)	G808E	probably damaging	Het
Clec11a	C	T	7: 43,954,317 (GRCm39)	R212Q	probably damaging	Het
Cog4	T	C	8: 111,608,384 (GRCm39)	W749R	probably damaging	Het
Col6a3	T	A	1: 90,738,301 (GRCm39)	T1073S	probably benign	Het
Col6a4	T	A	9: 105,952,209 (GRCm39)	D563V	probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crebbp	A	C	16: 3,914,346 (GRCm39)	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,449,051 (GRCm39)	G2737W		Het
Ddrgk1	T	C	2: 130,500,227 (GRCm39)	Y223C	probably damaging	Het
Dennd1c	T	C	17: 57,373,796 (GRCm39)	Q589R	probably benign	Het
Dnah10	A	G	5: 124,907,475 (GRCm39)	D4336G	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,938 (GRCm39)	Q140L	possibly damaging	Het
Ergic3	A	G	2: 155,850,780 (GRCm39)	Y83C	probably damaging	Het
Fndc3a	T	A	14: 72,921,162 (GRCm39)	H4L	possibly damaging	Het
Gid8	T	A	2: 180,359,756 (GRCm39)	Y213*	probably null	Het
Hephl1	G	T	9: 15,000,375 (GRCm39)	H292Q	probably damaging	Het
Hexb	T	C	13: 97,314,414 (GRCm39)	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,746,788 (GRCm39)	R168H	probably benign	Het
Hus1	A	G	11: 8,956,056 (GRCm39)	I159T	probably damaging	Het
Inha	A	G	1: 75,486,133 (GRCm39)	T143A	probably benign	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Itgae	G	T	11: 73,016,089 (GRCm39)	C766F	possibly damaging	Het
Kank4	T	C	4: 98,666,563 (GRCm39)	E628G	probably benign	Het
Kctd19	T	C	8: 106,120,571 (GRCm39)	H221R	probably benign	Het
Llgl1	A	G	11: 60,597,934 (GRCm39)	E351G	probably benign	Het
Lrba	A	G	3: 86,202,508 (GRCm39)	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,291,713 (GRCm39)	R3489*	probably null	Het
Lrriq1	T	C	10: 103,050,640 (GRCm39)	N704S	probably benign	Het
Mbtps1	T	C	8: 120,235,693 (GRCm39)	N995S	probably benign	Het
Mga	T	C	2: 119,757,013 (GRCm39)	C1077R	probably damaging	Het
Muc21	G	A	17: 35,932,131 (GRCm39)	P685L	unknown	Het
Ndufv1	A	T	19: 4,059,912 (GRCm39)	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,429,660 (GRCm39)	L226P	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Or12k8	A	C	2: 36,975,016 (GRCm39)	M248R	probably benign	Het
Or1d2	A	G	11: 74,255,791 (GRCm39)	T99A	probably benign	Het
Or2n1d	A	T	17: 38,646,224 (GRCm39)	M59L	probably damaging	Het
Or5b99	G	A	19: 12,976,428 (GRCm39)	C26Y	probably benign	Het
Or7g35	A	T	9: 19,496,379 (GRCm39)	D182V	probably benign	Het
Phc3	A	G	3: 30,968,691 (GRCm39)	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Ppp4c	A	T	7: 126,386,419 (GRCm39)	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,422,023 (GRCm39)	P308T	probably damaging	Het
Rhot1	A	G	11: 80,148,380 (GRCm39)	T607A	probably null	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,701,294 (GRCm39)	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,672,571 (GRCm39)	Y36H	probably damaging	Het
Sox17	T	C	1: 4,562,447 (GRCm39)	Y251C	probably damaging	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Taf4b	T	C	18: 14,946,296 (GRCm39)	V373A	probably benign	Het
Tecpr2	T	A	12: 110,881,184 (GRCm39)	V107E	probably damaging	Het
Them7	A	G	2: 105,209,124 (GRCm39)	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Ttn	C	T	2: 76,625,937 (GRCm39)	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,754,615 (GRCm39)	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,196,343 (GRCm39)	R309*	probably null	Het
Vmn2r10	A	T	5: 109,144,212 (GRCm39)	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,917,207 (GRCm39)	Q435R	probably null	Het
Vmn2r50	A	T	7: 9,781,571 (GRCm39)	H391Q	probably damaging	Het
Zbtb44	A	T	9: 30,965,309 (GRCm39)	I240F	probably benign	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
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
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'- CTGTGACAGCAGAAAGTCGG -3'
(R):5'- GATCAGGCTACGTCGATGTC -3'

Sequencing Primer
(F):5'- CCCTTGTGGCCCAGATAATG -3'
(R):5'- AGGCTACGTCGATGTCTCAAC -3'

Posted On

2022-01-20