Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Fam171b'

560275

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83812636-83883486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83878230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 359 (T359A)

Ref Sequence

ENSEMBL: ENSMUSP00000062702 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051454
AA Change: T359A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: T359A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,291,627 (GRCm38)	M1850V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,468 (GRCm38)	D326G	possibly damaging	Het
Acaca	A	G	11: 84,262,474 (GRCm38)	T903A	probably benign	Het
Acin1	A	T	14: 54,664,899 (GRCm38)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,712,512 (GRCm38)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,724,222 (GRCm38)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,886,824 (GRCm38)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,273,232 (GRCm38)	Q306*	probably null	Het
Arntl	T	A	7: 113,285,142 (GRCm38)	M122K	probably damaging	Het
Art4	A	T	6: 136,854,549 (GRCm38)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm38)	R686W	probably damaging	Het
Atg7	A	G	6: 114,777,057 (GRCm38)	H724R	probably damaging	Het
B020004J07Rik	T	A	4: 101,838,141 (GRCm38)		probably null	Het
BC034090	A	G	1: 155,241,934 (GRCm38)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,731,586 (GRCm38)	Q45L	probably damaging	Het
Ccdc36	A	T	9: 108,404,775 (GRCm38)	D571E	probably damaging	Het
Cd28	G	T	1: 60,763,173 (GRCm38)	E84*	probably null	Het
Ceacam3	G	A	7: 17,158,238 (GRCm38)	W302*	probably null	Het
Cerkl	T	C	2: 79,333,590 (GRCm38)	N462S	probably benign	Het
Cisd2	A	T	3: 135,411,213 (GRCm38)	L39H	probably damaging	Het
Col11a1	C	A	3: 114,090,157 (GRCm38)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm38)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,142,991 (GRCm38)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,401,776 (GRCm38)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,991,447 (GRCm38)	S263A	probably benign	Het
Cyp3a25	T	A	5: 146,003,058 (GRCm38)	L46F	probably benign	Het
D17Wsu92e	A	C	17: 27,794,070 (GRCm38)		probably null	Het
Dmrta1	T	A	4: 89,692,171 (GRCm38)	L456*	probably null	Het
Dnah12	T	C	14: 26,814,622 (GRCm38)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,328,311 (GRCm38)	S253R	probably damaging	Het
Egln2	A	C	7: 27,160,319 (GRCm38)	I323S	probably damaging	Het
Fcgr2b	G	T	1: 170,963,397 (GRCm38)	Q276K	probably benign	Het
Fcrls	C	T	3: 87,252,627 (GRCm38)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 53,073,654 (GRCm38)	V266A	unknown	Het
Glo1	A	T	17: 30,597,854 (GRCm38)	D109E	probably benign	Het
Grin3b	A	G	10: 79,974,078 (GRCm38)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm38)	L425F	probably damaging	Het
Kcnq5	T	C	1: 21,402,875 (GRCm38)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,873,343 (GRCm38)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,629,897 (GRCm38)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,996,476 (GRCm38)	T55S	probably benign	Het
Lyst	T	A	13: 13,709,300 (GRCm38)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,631,351 (GRCm38)	Y140H	probably benign	Het
Mak	T	C	13: 41,051,440 (GRCm38)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,489,172 (GRCm38)	I789T	probably benign	Het
Mrpl4	T	C	9: 21,007,338 (GRCm38)	I123T	probably benign	Het
Mup18	G	C	4: 61,673,336 (GRCm38)		probably null	Het
Myef2	T	C	2: 125,096,162 (GRCm38)		probably null	Het
Myh7	T	C	14: 54,990,945 (GRCm38)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,715,459 (GRCm38)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,830,895 (GRCm38)	Y85*	probably null	Het
Nyap1	A	T	5: 137,736,262 (GRCm38)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,094 (GRCm38)		probably benign	Het
Olfr392	A	G	11: 73,814,341 (GRCm38)	V247A	probably benign	Het
Olfr559	T	A	7: 102,724,485 (GRCm38)	I2F	probably benign	Het
Olfr718-ps1	A	G	5: 143,137,798 (GRCm38)	Y157H	probably damaging	Het
Papss1	T	C	3: 131,599,926 (GRCm38)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,196,408 (GRCm38)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,737,179 (GRCm38)	M1K	probably null	Het
Ppwd1	G	A	13: 104,207,172 (GRCm38)	P575L	probably damaging	Het
Prc1	A	G	7: 80,311,089 (GRCm38)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,316,306 (GRCm38)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,698,803 (GRCm38)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 185,267,191 (GRCm38)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,424,330 (GRCm38)	Q539*	probably null	Het
Rps12	A	G	10: 23,785,231 (GRCm38)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,788,252 (GRCm38)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,702,357 (GRCm38)	P294L	probably benign	Het
Slc6a2	T	C	8: 92,995,672 (GRCm38)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,237,285 (GRCm38)	N673S	probably null	Het
Snap91	A	T	9: 86,790,146 (GRCm38)		probably null	Het
Srpk2	A	G	5: 23,507,628 (GRCm38)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,316,788 (GRCm38)	S824T	probably benign	Het
Taar7a	A	G	10: 23,992,460 (GRCm38)	V341A	probably benign	Het
Tmem52	G	A	4: 155,470,321 (GRCm38)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,874,754 (GRCm38)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855 (GRCm38)		probably null	Het
Vmn1r173	A	T	7: 23,702,158 (GRCm38)		probably benign	Het
Vmn2r118	G	A	17: 55,608,496 (GRCm38)	R485*	probably null	Het
Vwce	A	G	19: 10,638,115 (GRCm38)	E120G	possibly damaging	Het
Zfp143	T	C	7: 110,093,080 (GRCm38)	V566A	possibly damaging	Het

Other mutations in Fam171b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Fam171b	APN	2	83,876,728 (GRCm38)	nonsense	probably null
IGL01309:Fam171b	APN	2	83,879,447 (GRCm38)	nonsense	probably null
IGL01515:Fam171b	APN	2	83,880,233 (GRCm38)	missense	probably damaging	0.99
IGL01604:Fam171b	APN	2	83,879,600 (GRCm38)	missense	possibly damaging	0.50
IGL01729:Fam171b	APN	2	83,855,537 (GRCm38)	splice site	probably benign
IGL01784:Fam171b	APN	2	83,879,687 (GRCm38)	missense	possibly damaging	0.83
P0028:Fam171b	UTSW	2	83,853,439 (GRCm38)	missense	probably damaging	1.00
R1203:Fam171b	UTSW	2	83,812,969 (GRCm38)	missense	probably benign	0.05
R1530:Fam171b	UTSW	2	83,880,189 (GRCm38)	missense	probably damaging	1.00
R1539:Fam171b	UTSW	2	83,880,098 (GRCm38)	missense	probably benign	0.00
R1564:Fam171b	UTSW	2	83,880,284 (GRCm38)	missense	probably damaging	1.00
R1858:Fam171b	UTSW	2	83,853,381 (GRCm38)	missense	probably benign
R1940:Fam171b	UTSW	2	83,812,874 (GRCm38)	small deletion	probably benign
R2131:Fam171b	UTSW	2	83,879,858 (GRCm38)	missense	probably damaging	0.97
R3746:Fam171b	UTSW	2	83,879,600 (GRCm38)	missense	probably damaging	1.00
R3777:Fam171b	UTSW	2	83,878,261 (GRCm38)	missense	probably benign	0.03
R3840:Fam171b	UTSW	2	83,880,062 (GRCm38)	missense	possibly damaging	0.76
R4920:Fam171b	UTSW	2	83,880,359 (GRCm38)	missense	possibly damaging	0.73
R5007:Fam171b	UTSW	2	83,855,509 (GRCm38)	nonsense	probably null
R5178:Fam171b	UTSW	2	83,879,987 (GRCm38)	missense	probably damaging	1.00
R5282:Fam171b	UTSW	2	83,853,605 (GRCm38)	critical splice donor site	probably null
R5544:Fam171b	UTSW	2	83,855,527 (GRCm38)	missense	possibly damaging	0.58
R5614:Fam171b	UTSW	2	83,812,873 (GRCm38)	missense	probably damaging	0.99
R5786:Fam171b	UTSW	2	83,878,236 (GRCm38)	missense	probably benign	0.38
R6190:Fam171b	UTSW	2	83,876,698 (GRCm38)	missense	probably benign
R6247:Fam171b	UTSW	2	83,879,208 (GRCm38)	missense	probably damaging	1.00
R6309:Fam171b	UTSW	2	83,860,460 (GRCm38)	missense	probably damaging	0.99
R6324:Fam171b	UTSW	2	83,879,264 (GRCm38)	nonsense	probably null
R7127:Fam171b	UTSW	2	83,879,766 (GRCm38)	missense	probably benign	0.25
R7223:Fam171b	UTSW	2	83,878,230 (GRCm38)	missense	probably damaging	1.00
R7689:Fam171b	UTSW	2	83,879,388 (GRCm38)	missense	probably benign	0.38
R7904:Fam171b	UTSW	2	83,853,505 (GRCm38)	missense	probably damaging	0.97
R8069:Fam171b	UTSW	2	83,812,874 (GRCm38)	small deletion	probably benign
R8236:Fam171b	UTSW	2	83,880,206 (GRCm38)	missense	probably damaging	0.97
R8252:Fam171b	UTSW	2	83,878,242 (GRCm38)	missense	probably benign	0.00
R8458:Fam171b	UTSW	2	83,860,520 (GRCm38)	missense	probably benign	0.21
R8463:Fam171b	UTSW	2	83,853,457 (GRCm38)	missense	probably damaging	1.00
R8546:Fam171b	UTSW	2	83,855,451 (GRCm38)	missense	probably damaging	1.00
R8706:Fam171b	UTSW	2	83,860,520 (GRCm38)	missense	probably benign	0.21
R8792:Fam171b	UTSW	2	83,812,759 (GRCm38)	missense	probably damaging	1.00
R9187:Fam171b	UTSW	2	83,880,021 (GRCm38)	missense	probably damaging	1.00
R9225:Fam171b	UTSW	2	83,880,042 (GRCm38)	missense	probably damaging	1.00
R9266:Fam171b	UTSW	2	83,853,582 (GRCm38)	missense	probably damaging	1.00
R9353:Fam171b	UTSW	2	83,876,684 (GRCm38)	missense	probably benign	0.13
R9532:Fam171b	UTSW	2	83,879,868 (GRCm38)	missense	probably damaging	1.00
R9549:Fam171b	UTSW	2	83,812,855 (GRCm38)	missense	probably damaging	0.99
R9621:Fam171b	UTSW	2	83,812,765 (GRCm38)	missense	probably damaging	1.00
R9625:Fam171b	UTSW	2	83,853,570 (GRCm38)	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83,860,443 (GRCm38)	missense	probably damaging	0.99
RF001:Fam171b	UTSW	2	83,812,886 (GRCm38)	small insertion	probably benign
RF009:Fam171b	UTSW	2	83,812,880 (GRCm38)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,812,895 (GRCm38)	small insertion	probably benign
RF011:Fam171b	UTSW	2	83,812,873 (GRCm38)	small insertion	probably benign
RF013:Fam171b	UTSW	2	83,812,895 (GRCm38)	small insertion	probably benign
RF027:Fam171b	UTSW	2	83,812,876 (GRCm38)	small insertion	probably benign
RF029:Fam171b	UTSW	2	83,812,892 (GRCm38)	small insertion	probably benign
RF036:Fam171b	UTSW	2	83,812,892 (GRCm38)	small insertion	probably benign
RF055:Fam171b	UTSW	2	83,812,876 (GRCm38)	small insertion	probably benign
RF056:Fam171b	UTSW	2	83,812,896 (GRCm38)	small insertion	probably benign
RF060:Fam171b	UTSW	2	83,812,877 (GRCm38)	small insertion	probably benign
RF063:Fam171b	UTSW	2	83,812,896 (GRCm38)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACACACGTACTCAGTCTGTC -3'
(R):5'- TCATGTGTATATATGTGCATGTCTGAG -3'

Sequencing Primer
(F):5'- TGTCTCATCCAGGGTGAAAC -3'
(R):5'- ATTGCAGCTTCCGTAAGAGC -3'

Posted On

2019-06-26