Mutagenetix > Incidental Mutation

Incidental Mutation 'R5544:Fam171b'

501176

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

MMRRC Submission

043102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5544 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83642980-83713830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83685871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 185 (A185D)

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051454]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051454
AA Change: A185D

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: A185D

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
Pfam:UPF0560	80	591	4.3e-101	PFAM
Pfam:UPF0560	583	821	6.7e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148184

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	G	A	9: 30,863,999 (GRCm39)	A372T	probably damaging	Het
Ap4m1	A	G	5: 138,176,632 (GRCm39)	T411A	probably benign	Het
Arid3b	T	A	9: 57,705,380 (GRCm39)	K274*	probably null	Het
Bcan	A	G	3: 87,900,360 (GRCm39)		probably null	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
C9	T	A	15: 6,526,508 (GRCm39)	V514D	probably damaging	Het
Cdk2	A	C	10: 128,535,008 (GRCm39)	D336E	probably benign	Het
Corin	A	T	5: 72,462,357 (GRCm39)	Y825*	probably null	Het
Cyp17a1	A	G	19: 46,661,093 (GRCm39)	Y64H	probably damaging	Het
Dock4	T	G	12: 40,884,701 (GRCm39)	I1735S	possibly damaging	Het
Dock7	T	C	4: 98,855,494 (GRCm39)	H1486R	probably damaging	Het
Fbxl13	A	G	5: 21,729,489 (GRCm39)	I441T	probably damaging	Het
Gm7347	T	A	5: 26,260,016 (GRCm39)	D178V	possibly damaging	Het
Greb1	C	A	12: 16,723,797 (GRCm39)	C1884F	probably damaging	Het
Kdr	G	A	5: 76,121,403 (GRCm39)	R536*	probably null	Het
Lamc2	T	C	1: 152,999,799 (GRCm39)	T1187A	possibly damaging	Het
Mal	T	A	2: 127,476,937 (GRCm39)	H142L	probably damaging	Het
Map4k2	A	C	19: 6,395,944 (GRCm39)		probably null	Het
Morn4	T	C	19: 42,064,686 (GRCm39)	T101A	possibly damaging	Het
Neto2	A	G	8: 86,374,506 (GRCm39)	V241A	possibly damaging	Het
Nprl2	T	C	9: 107,421,808 (GRCm39)	V232A	probably benign	Het
Pcdhb13	T	C	18: 37,576,573 (GRCm39)	V317A	possibly damaging	Het
Pcdhb17	T	A	18: 37,620,474 (GRCm39)	C755S	possibly damaging	Het
Pgc	A	G	17: 48,043,429 (GRCm39)	D259G	probably benign	Het
Ptprh	C	A	7: 4,583,909 (GRCm39)	E228*	probably null	Het
R3hdml	A	G	2: 163,340,342 (GRCm39)	T170A	probably damaging	Het
Retreg2	T	G	1: 75,121,333 (GRCm39)	*174G	probably null	Het
Rps6ka1	A	G	4: 133,599,326 (GRCm39)	S34P	probably benign	Het
Rptn	A	G	3: 93,305,780 (GRCm39)	T1038A	possibly damaging	Het
Sel1l3	A	T	5: 53,357,644 (GRCm39)	V116D	probably damaging	Het
Sidt2	A	T	9: 45,855,753 (GRCm39)	Y509N	probably damaging	Het
Slc16a11	T	A	11: 70,105,826 (GRCm39)		probably null	Het
Thsd7a	G	T	6: 12,379,470 (GRCm39)	Q985K	possibly damaging	Het
Ttn	T	C	2: 76,556,882 (GRCm39)	N30041S	probably benign	Het
Vmn1r231	A	G	17: 21,110,840 (GRCm39)	I25T	probably damaging	Het
Wdr81	T	C	11: 75,332,623 (GRCm39)	D1926G	probably damaging	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam171b	APN	2	83,707,072 (GRCm39)	nonsense	probably null
IGL01309:Fam171b	APN	2	83,709,791 (GRCm39)	nonsense	probably null
IGL01515:Fam171b	APN	2	83,710,577 (GRCm39)	missense	probably damaging	0.99
IGL01604:Fam171b	APN	2	83,709,944 (GRCm39)	missense	possibly damaging	0.50
IGL01729:Fam171b	APN	2	83,685,881 (GRCm39)	splice site	probably benign
IGL01784:Fam171b	APN	2	83,710,031 (GRCm39)	missense	possibly damaging	0.83
P0028:Fam171b	UTSW	2	83,683,783 (GRCm39)	missense	probably damaging	1.00
R1203:Fam171b	UTSW	2	83,643,313 (GRCm39)	missense	probably benign	0.05
R1530:Fam171b	UTSW	2	83,710,533 (GRCm39)	missense	probably damaging	1.00
R1539:Fam171b	UTSW	2	83,710,442 (GRCm39)	missense	probably benign	0.00
R1564:Fam171b	UTSW	2	83,710,628 (GRCm39)	missense	probably damaging	1.00
R1858:Fam171b	UTSW	2	83,683,725 (GRCm39)	missense	probably benign
R1940:Fam171b	UTSW	2	83,643,218 (GRCm39)	small deletion	probably benign
R2131:Fam171b	UTSW	2	83,710,202 (GRCm39)	missense	probably damaging	0.97
R3746:Fam171b	UTSW	2	83,709,944 (GRCm39)	missense	probably damaging	1.00
R3777:Fam171b	UTSW	2	83,708,605 (GRCm39)	missense	probably benign	0.03
R3840:Fam171b	UTSW	2	83,710,406 (GRCm39)	missense	possibly damaging	0.76
R4920:Fam171b	UTSW	2	83,710,703 (GRCm39)	missense	possibly damaging	0.73
R5007:Fam171b	UTSW	2	83,685,853 (GRCm39)	nonsense	probably null
R5178:Fam171b	UTSW	2	83,710,331 (GRCm39)	missense	probably damaging	1.00
R5282:Fam171b	UTSW	2	83,683,949 (GRCm39)	critical splice donor site	probably null
R5614:Fam171b	UTSW	2	83,643,217 (GRCm39)	missense	probably damaging	0.99
R5786:Fam171b	UTSW	2	83,708,580 (GRCm39)	missense	probably benign	0.38
R6190:Fam171b	UTSW	2	83,707,042 (GRCm39)	missense	probably benign
R6247:Fam171b	UTSW	2	83,709,552 (GRCm39)	missense	probably damaging	1.00
R6309:Fam171b	UTSW	2	83,690,804 (GRCm39)	missense	probably damaging	0.99
R6324:Fam171b	UTSW	2	83,709,608 (GRCm39)	nonsense	probably null
R7127:Fam171b	UTSW	2	83,710,110 (GRCm39)	missense	probably benign	0.25
R7201:Fam171b	UTSW	2	83,708,574 (GRCm39)	missense	probably damaging	1.00
R7223:Fam171b	UTSW	2	83,708,574 (GRCm39)	missense	probably damaging	1.00
R7689:Fam171b	UTSW	2	83,709,732 (GRCm39)	missense	probably benign	0.38
R7904:Fam171b	UTSW	2	83,683,849 (GRCm39)	missense	probably damaging	0.97
R8069:Fam171b	UTSW	2	83,643,218 (GRCm39)	small deletion	probably benign
R8236:Fam171b	UTSW	2	83,710,550 (GRCm39)	missense	probably damaging	0.97
R8252:Fam171b	UTSW	2	83,708,586 (GRCm39)	missense	probably benign	0.00
R8458:Fam171b	UTSW	2	83,690,864 (GRCm39)	missense	probably benign	0.21
R8463:Fam171b	UTSW	2	83,683,801 (GRCm39)	missense	probably damaging	1.00
R8546:Fam171b	UTSW	2	83,685,795 (GRCm39)	missense	probably damaging	1.00
R8706:Fam171b	UTSW	2	83,690,864 (GRCm39)	missense	probably benign	0.21
R8792:Fam171b	UTSW	2	83,643,103 (GRCm39)	missense	probably damaging	1.00
R9187:Fam171b	UTSW	2	83,710,365 (GRCm39)	missense	probably damaging	1.00
R9225:Fam171b	UTSW	2	83,710,386 (GRCm39)	missense	probably damaging	1.00
R9266:Fam171b	UTSW	2	83,683,926 (GRCm39)	missense	probably damaging	1.00
R9353:Fam171b	UTSW	2	83,707,028 (GRCm39)	missense	probably benign	0.13
R9532:Fam171b	UTSW	2	83,710,212 (GRCm39)	missense	probably damaging	1.00
R9549:Fam171b	UTSW	2	83,643,199 (GRCm39)	missense	probably damaging	0.99
R9621:Fam171b	UTSW	2	83,643,109 (GRCm39)	missense	probably damaging	1.00
R9625:Fam171b	UTSW	2	83,683,914 (GRCm39)	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83,690,787 (GRCm39)	missense	probably damaging	0.99
RF001:Fam171b	UTSW	2	83,643,230 (GRCm39)	small insertion	probably benign
RF009:Fam171b	UTSW	2	83,643,224 (GRCm39)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,643,239 (GRCm39)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,643,217 (GRCm39)	small insertion	probably benign
RF013:Fam171b	UTSW	2	83,643,239 (GRCm39)	small insertion	probably benign
RF027:Fam171b	UTSW	2	83,643,220 (GRCm39)	small insertion	probably benign
RF029:Fam171b	UTSW	2	83,643,236 (GRCm39)	small insertion	probably benign
RF036:Fam171b	UTSW	2	83,643,236 (GRCm39)	small insertion	probably benign
RF055:Fam171b	UTSW	2	83,643,220 (GRCm39)	small insertion	probably benign
RF056:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign
RF060:Fam171b	UTSW	2	83,643,221 (GRCm39)	small insertion	probably benign
RF063:Fam171b	UTSW	2	83,643,240 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGAGCAAGAGTCTCTGTGG -3'
(R):5'- CAAGCCCCATGTTTAGTGCATG -3'

Sequencing Primer
(F):5'- ATAGAGTCCTTTGAGACACACTGCG -3'
(R):5'- GCCCCATGTTTAGTGCATGCTAAAG -3'

Posted On

2017-12-01