Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Fam161b'

559511

Institutional Source

Beutler Lab

Gene Symbol

Fam161b

Ensembl Gene

ENSMUSG00000021234

Gene Name

family with sequence similarity 161, member B

Synonyms

9830169C18Rik

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84392083-84408607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84395420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 508 (S508G)

Ref Sequence

ENSEMBL: ENSMUSP00000021659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021659] [ENSMUST00000045931] [ENSMUST00000065536] [ENSMUST00000222606]

AlphaFold

Q8CB59

Predicted Effect

probably damaging
Transcript: ENSMUST00000021659
AA Change: S508G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
AA Change: S508G

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	5.3e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045931

SMART Domains

Protein: ENSMUSP00000045550
Gene: ENSMUSG00000042472

Domain	Start	End	E-Value	Type
ZnF_C2H2	219	243	1.04e-3	SMART
ZnF_C2H2	249	273	6.88e-4	SMART
ZnF_C2H2	279	303	1.13e-4	SMART
ZnF_C2H2	309	333	1.45e-2	SMART
ZnF_C2H2	339	361	5.59e-4	SMART
low complexity region	400	417	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065536
AA Change: S508G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
AA Change: S508G

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
low complexity region	93	107	N/A	INTRINSIC
Pfam:UPF0564	168	535	8.3e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000222606

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Schip1	A	T	3: 68,525,032 (GRCm39)	K359M	probably damaging	Het
Schip1	G	T	3: 68,525,033 (GRCm39)	K359N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	Het

Other mutations in Fam161b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Fam161b	APN	12	84,408,525 (GRCm39)	unclassified	probably benign
IGL00900:Fam161b	APN	12	84,402,743 (GRCm39)	missense	probably benign	0.05
IGL00905:Fam161b	APN	12	84,404,459 (GRCm39)	missense	probably benign	0.00
IGL01123:Fam161b	APN	12	84,404,438 (GRCm39)	missense	probably benign	0.00
IGL02156:Fam161b	APN	12	84,401,527 (GRCm39)	missense	probably benign	0.00
IGL02630:Fam161b	APN	12	84,400,688 (GRCm39)	missense	probably benign	0.03
IGL02670:Fam161b	APN	12	84,404,368 (GRCm39)	missense	probably benign	0.00
IGL03160:Fam161b	APN	12	84,400,599 (GRCm39)	missense	probably benign	0.05
R0560:Fam161b	UTSW	12	84,404,492 (GRCm39)	missense	probably damaging	0.96
R0569:Fam161b	UTSW	12	84,395,413 (GRCm39)	missense	probably damaging	1.00
R1834:Fam161b	UTSW	12	84,395,552 (GRCm39)	splice site	probably benign
R2070:Fam161b	UTSW	12	84,403,202 (GRCm39)	missense	probably benign	0.00
R3784:Fam161b	UTSW	12	84,408,464 (GRCm39)	critical splice donor site	probably null
R3786:Fam161b	UTSW	12	84,408,464 (GRCm39)	critical splice donor site	probably null
R4697:Fam161b	UTSW	12	84,395,332 (GRCm39)	unclassified	probably benign
R5247:Fam161b	UTSW	12	84,404,524 (GRCm39)	missense	probably damaging	1.00
R5390:Fam161b	UTSW	12	84,395,408 (GRCm39)	missense	probably damaging	0.99
R5668:Fam161b	UTSW	12	84,403,124 (GRCm39)	missense	probably damaging	0.96
R6891:Fam161b	UTSW	12	84,401,554 (GRCm39)	missense	probably damaging	1.00
R7410:Fam161b	UTSW	12	84,404,575 (GRCm39)	missense	probably benign	0.04
R7514:Fam161b	UTSW	12	84,404,512 (GRCm39)	missense	possibly damaging	0.76
R8035:Fam161b	UTSW	12	84,395,430 (GRCm39)	missense	probably damaging	1.00
R8219:Fam161b	UTSW	12	84,393,648 (GRCm39)	missense	probably benign	0.00
R8428:Fam161b	UTSW	12	84,404,369 (GRCm39)	missense	probably benign	0.00
R8921:Fam161b	UTSW	12	84,395,056 (GRCm39)	missense	probably benign	0.02
R9638:Fam161b	UTSW	12	84,403,187 (GRCm39)	missense	probably benign	0.00
X0019:Fam161b	UTSW	12	84,401,747 (GRCm39)	missense	probably benign	0.30
Z1176:Fam161b	UTSW	12	84,402,827 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAAGCTAAGCAGAGGCATTC -3'
(R):5'- GAGAAGGTCCTACGATTGCTTATG -3'

Sequencing Primer
(F):5'- TAAGCAGAGGCATTCCCGTGTAC -3'
(R):5'- ATGCATGTGCCCAGGTCATC -3'

Posted On

2019-06-26