Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Fam171b'

602481

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

RF001 (G1)

Quality Score

214.544

Status

Not validated

Chromosome

Chromosomal Location

83812636-83883486 bp(+) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCAGCA to GCAGCATCAGCA at 83812886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051454

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590		probably benign	Het
Acer1	A	G	17: 56,958,909	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Atp13a1	C	A	8: 69,800,070	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927		probably benign	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423		probably benign	Het
Coq7	A	G	7: 118,533,182	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416		probably benign	Het
Dgkz	A	T	2: 91,939,941	F521I	possibly damaging	Het
Fat1	T	G	8: 44,988,966	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018		probably benign	Het
Gm14412	T	C	2: 177,317,101	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762		probably benign	Het
Inpp5f	G	A	7: 128,695,083	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282		probably benign	Het
Lama1	A	G	17: 67,752,902	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269		probably benign	Het
Lmo4	A	C	3: 144,201,862	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797	D303E	probably benign	Het
Me1	A	G	9: 86,582,823	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371	D368G	probably benign	Het
Myom2	T	C	8: 15,081,418	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075		probably benign	Het
Sertad4	T	C	1: 192,847,178	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tecpr1	A	G	5: 144,217,386	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027		probably benign	Het
Vmn1r48	A	T	6: 90,036,204	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687		probably benign	Het
Zscan29	T	C	2: 121,163,996	N503D	possibly damaging	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam171b	APN	2	83876728	nonsense	probably null
IGL01309:Fam171b	APN	2	83879447	nonsense	probably null
IGL01515:Fam171b	APN	2	83880233	missense	probably damaging	0.99
IGL01604:Fam171b	APN	2	83879600	missense	possibly damaging	0.50
IGL01729:Fam171b	APN	2	83855537	splice site	probably benign
IGL01784:Fam171b	APN	2	83879687	missense	possibly damaging	0.83
P0028:Fam171b	UTSW	2	83853439	missense	probably damaging	1.00
R1203:Fam171b	UTSW	2	83812969	missense	probably benign	0.05
R1530:Fam171b	UTSW	2	83880189	missense	probably damaging	1.00
R1539:Fam171b	UTSW	2	83880098	missense	probably benign	0.00
R1564:Fam171b	UTSW	2	83880284	missense	probably damaging	1.00
R1858:Fam171b	UTSW	2	83853381	missense	probably benign
R1940:Fam171b	UTSW	2	83812874	small deletion	probably benign
R2131:Fam171b	UTSW	2	83879858	missense	probably damaging	0.97
R3746:Fam171b	UTSW	2	83879600	missense	probably damaging	1.00
R3777:Fam171b	UTSW	2	83878261	missense	probably benign	0.03
R3840:Fam171b	UTSW	2	83880062	missense	possibly damaging	0.76
R4920:Fam171b	UTSW	2	83880359	missense	possibly damaging	0.73
R5007:Fam171b	UTSW	2	83855509	nonsense	probably null
R5178:Fam171b	UTSW	2	83879987	missense	probably damaging	1.00
R5282:Fam171b	UTSW	2	83853605	critical splice donor site	probably null
R5544:Fam171b	UTSW	2	83855527	missense	possibly damaging	0.58
R5614:Fam171b	UTSW	2	83812873	missense	probably damaging	0.99
R5786:Fam171b	UTSW	2	83878236	missense	probably benign	0.38
R6190:Fam171b	UTSW	2	83876698	missense	probably benign
R6247:Fam171b	UTSW	2	83879208	missense	probably damaging	1.00
R6309:Fam171b	UTSW	2	83860460	missense	probably damaging	0.99
R6324:Fam171b	UTSW	2	83879264	nonsense	probably null
R7127:Fam171b	UTSW	2	83879766	missense	probably benign	0.25
R7201:Fam171b	UTSW	2	83878230	missense	probably damaging	1.00
R7223:Fam171b	UTSW	2	83878230	missense	probably damaging	1.00
R7689:Fam171b	UTSW	2	83879388	missense	probably benign	0.38
R7904:Fam171b	UTSW	2	83853505	missense	probably damaging	0.97
R8069:Fam171b	UTSW	2	83812874	small deletion	probably benign
R8236:Fam171b	UTSW	2	83880206	missense	probably damaging	0.97
R8252:Fam171b	UTSW	2	83878242	missense	probably benign	0.00
R8458:Fam171b	UTSW	2	83860520	missense	probably benign	0.21
R8463:Fam171b	UTSW	2	83853457	missense	probably damaging	1.00
R8546:Fam171b	UTSW	2	83855451	missense	probably damaging	1.00
R8706:Fam171b	UTSW	2	83860520	missense	probably benign	0.21
R8792:Fam171b	UTSW	2	83812759	missense	probably damaging	1.00
R9187:Fam171b	UTSW	2	83880021	missense	probably damaging	1.00
R9225:Fam171b	UTSW	2	83880042	missense	probably damaging	1.00
R9266:Fam171b	UTSW	2	83853582	missense	probably damaging	1.00
R9353:Fam171b	UTSW	2	83876684	missense	probably benign	0.13
R9532:Fam171b	UTSW	2	83879868	missense	probably damaging	1.00
R9549:Fam171b	UTSW	2	83812855	missense	probably damaging	0.99
R9621:Fam171b	UTSW	2	83812765	missense	probably damaging	1.00
R9625:Fam171b	UTSW	2	83853570	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83860443	missense	probably damaging	0.99
RF009:Fam171b	UTSW	2	83812880	small insertion	probably benign
RF011:Fam171b	UTSW	2	83812873	small insertion	probably benign
RF011:Fam171b	UTSW	2	83812895	small insertion	probably benign
RF013:Fam171b	UTSW	2	83812895	small insertion	probably benign
RF027:Fam171b	UTSW	2	83812876	small insertion	probably benign
RF029:Fam171b	UTSW	2	83812892	small insertion	probably benign
RF036:Fam171b	UTSW	2	83812892	small insertion	probably benign
RF055:Fam171b	UTSW	2	83812876	small insertion	probably benign
RF056:Fam171b	UTSW	2	83812896	small insertion	probably benign
RF060:Fam171b	UTSW	2	83812877	small insertion	probably benign
RF063:Fam171b	UTSW	2	83812896	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACCTTGCAGAGCACTTG -3'
(R):5'- AGCTAAGAATCCCGGGAAGC -3'

Sequencing Primer
(F):5'- TCACGTGCGCGAGGATG -3'
(R):5'- AATCCCGGGAAGCCTGATG -3'

Posted On

2019-12-04