Mutagenetix > Incidental Mutation

Incidental Mutation 'R8035:Fam161b'

618198

Institutional Source

Beutler Lab

Gene Symbol

Fam161b

Ensembl Gene

ENSMUSG00000021234

Gene Name

family with sequence similarity 161, member B

Synonyms

9830169C18Rik

MMRRC Submission

067472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84392083-84408607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84395430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 504 (D504E)

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: D504E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
AA Change: D504E

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: D504E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
AA Change: D504E

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,530,243 (GRCm39)	V938A	probably damaging	Het
Acot7	A	G	4: 152,337,611 (GRCm39)	T254A	possibly damaging	Het
Ankle2	C	T	5: 110,402,318 (GRCm39)	R943C	probably damaging	Het
Arrdc2	T	C	8: 71,292,026 (GRCm39)	K7R	probably benign	Het
Arsi	T	A	18: 61,049,442 (GRCm39)	H108Q	probably damaging	Het
Asap3	T	C	4: 135,968,514 (GRCm39)	Y689H	probably benign	Het
Bnip3	G	A	7: 138,493,666 (GRCm39)	T181I	probably damaging	Het
C87436	T	C	6: 86,424,337 (GRCm39)	S290P	probably benign	Het
Ccdc168	A	G	1: 44,100,711 (GRCm39)	V129A	possibly damaging	Het
Ccdc6	A	G	10: 69,933,331 (GRCm39)	I68V	probably benign	Het
Ccr3	T	C	9: 123,829,012 (GRCm39)	F116L	probably benign	Het
Cdh9	G	T	15: 16,831,152 (GRCm39)	V330F	probably damaging	Het
Cdkn1a	T	C	17: 29,318,350 (GRCm39)	C155R	possibly damaging	Het
Ctr9	C	T	7: 110,633,664 (GRCm39)	A165V	probably damaging	Het
Cyp2b19	G	A	7: 26,470,675 (GRCm39)	G439R	probably damaging	Het
Fdps	G	T	3: 89,002,783 (GRCm39)	P122T	probably benign	Het
Fmn2	T	C	1: 174,547,437 (GRCm39)	Y1454H	probably damaging	Het
Gipc2	T	C	3: 151,799,866 (GRCm39)	E288G	probably damaging	Het
Gm21411	A	C	4: 146,982,167 (GRCm39)		probably null	Het
Hnrnpc	C	T	14: 52,321,719 (GRCm39)	D32N	possibly damaging	Het
Hspa12b	T	A	2: 130,982,859 (GRCm39)	I239N	probably damaging	Het
Hspb8	T	C	5: 116,553,485 (GRCm39)	N138D	probably damaging	Het
Igkv4-69	T	C	6: 69,260,921 (GRCm39)	I69V	possibly damaging	Het
Itih1	A	C	14: 30,664,482 (GRCm39)	D81E	probably benign	Het
Kdm3b	T	C	18: 34,941,781 (GRCm39)	L624S	probably damaging	Het
Klk6	A	G	7: 43,478,086 (GRCm39)	M153V	probably benign	Het
Lgals9	A	T	11: 78,854,302 (GRCm39)	Y327*	probably null	Het
Lims1	T	A	10: 58,246,263 (GRCm39)		probably benign	Het
Lrp1b	T	A	2: 40,750,667 (GRCm39)	I3080F		Het
Mars2	C	T	1: 55,277,456 (GRCm39)	T353I	possibly damaging	Het
Matn4	T	C	2: 164,238,960 (GRCm39)	N307S	probably damaging	Het
Mettl17	C	T	14: 52,128,947 (GRCm39)	H406Y	probably damaging	Het
Mtor	T	A	4: 148,630,856 (GRCm39)	M2271K	probably benign	Het
Mtrex	T	C	13: 113,035,336 (GRCm39)	E539G	probably benign	Het
Myt1	T	C	2: 181,437,532 (GRCm39)	L81P	probably damaging	Het
Or56a3b	T	A	7: 104,770,757 (GRCm39)	L31H	probably damaging	Het
Or5b118	T	C	19: 13,449,263 (GRCm39)	F310L	probably benign	Het
Or6k4	A	T	1: 173,964,490 (GRCm39)	Y60F	probably damaging	Het
Or8b38	C	T	9: 37,972,961 (GRCm39)	T115I	probably damaging	Het
Pbrm1	A	G	14: 30,806,109 (GRCm39)	K1030R	probably damaging	Het
Rap1gds1	A	T	3: 138,721,311 (GRCm39)	D119E	probably damaging	Het
Rgs9	A	G	11: 109,164,150 (GRCm39)	I151T	probably benign	Het
Slc26a7	A	C	4: 14,621,338 (GRCm39)	M16R	possibly damaging	Het
Slx4ip	T	G	2: 136,885,945 (GRCm39)	Y88*	probably null	Het
Sppl2c	T	A	11: 104,078,192 (GRCm39)	W331R	probably benign	Het
Srcap	T	C	7: 127,141,784 (GRCm39)	S1855P	probably benign	Het
Svs5	A	G	2: 164,079,053 (GRCm39)	F285L	probably benign	Het
Tjp1	G	T	7: 64,992,450 (GRCm39)	A76E	probably benign	Het
Trip13	G	C	13: 74,061,373 (GRCm39)	A430G	probably benign	Het
Trpm6	A	G	19: 18,770,226 (GRCm39)	E337G	probably damaging	Het
Tut7	A	T	13: 59,937,004 (GRCm39)	N1214K	probably benign	Het
Vmn1r37	T	A	6: 66,708,377 (GRCm39)	M1K	probably null	Het
Wdr72	T	G	9: 74,086,783 (GRCm39)		probably benign	Het
Zfp583	T	C	7: 6,319,771 (GRCm39)	K414E	probably damaging	Het
Zfp940	A	C	7: 29,544,948 (GRCm39)	S320A	probably benign	Het
Zfp979	A	C	4: 147,697,763 (GRCm39)	C315W	probably damaging	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
R7189:Fam161b	UTSW	12	84,395,420 (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
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'- AGCTAAGCAGAGGCATTCC -3'
(R):5'- CGCAGAGAAGGTCCTACGATTG -3'

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

Posted On

2020-01-23