Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Fam171b'

724769

Institutional Source

Beutler Lab

Gene Symbol

Fam171b

Ensembl Gene

ENSMUSG00000048388

Gene Name

family with sequence similarity 171, member B

Synonyms

D430039N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9621 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

83812636-83883486 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83812765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 6 (R6H)

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: R6H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: R6H

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	C	A	12: 55,382,257	H538N	probably benign	Het
2410131K14Rik	C	T	5: 118,255,815	T86I	possibly damaging	Het
Abca1	T	C	4: 53,092,918	T289A	probably benign	Het
Adnp	A	T	2: 168,182,743	S877R	probably benign	Het
Akap13	T	A	7: 75,736,342	H555Q	probably benign	Het
Alg6	T	A	4: 99,726,894	Y38*	probably null	Het
Amtn	C	A	5: 88,380,346	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,402,598	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,486,237		probably benign	Het
Bhmt	A	G	13: 93,621,571	S211P	possibly damaging	Het
Bmp1	T	C	14: 70,477,866	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Cbfb	A	C	8: 105,178,611	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,167,381	F249L	probably damaging	Het
Cdh26	T	A	2: 178,470,190	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,718,537	E352G		Het
Cep295nl	G	A	11: 118,333,940	P26L	possibly damaging	Het
Cfdp1	A	G	8: 111,845,175	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,988,792	I846F	probably damaging	Het
Cntrl	A	G	2: 35,160,266	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,506,250	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,849,720	S778R		Het
Daam2	C	T	17: 49,473,304	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,561,403	H305R	probably damaging	Het
Dio1	C	T	4: 107,292,361	C248Y	probably benign	Het
Dnah1	C	A	14: 31,294,815	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,479,350	D319E	probably benign	Het
Fam214a	A	G	9: 75,010,230	N711D	possibly damaging	Het
Flnb	G	A	14: 7,926,421	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,122,020	V303I	possibly damaging	Het
Gli3	T	G	13: 15,726,668	S1547A	probably benign	Het
Gm4884	A	T	7: 41,043,687	N360I	possibly damaging	Het
Gm9573	T	A	17: 35,621,828	T489S	unknown	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Ino80	C	G	2: 119,450,015	K289N	probably damaging	Het
Itpr1	G	A	6: 108,416,909	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,117,468	I45F	unknown	Het
Kif1a	G	A	1: 93,055,723	P684L	probably benign	Het
Kpnb1	A	T	11: 97,167,634	S610T	probably benign	Het
Man1a2	A	G	3: 100,684,645	V73A	probably benign	Het
Mbtps1	A	G	8: 119,508,882	V1019A	possibly damaging	Het
Nup210	G	C	6: 91,017,393	N1774K	probably benign	Het
Olfr763	G	T	10: 129,011,890	V202F	probably benign	Het
Pik3c2b	T	C	1: 133,071,607	S398P	probably damaging	Het
Pmpca	A	G	2: 26,389,976	T37A	probably benign	Het
Ppfia1	A	G	7: 144,498,779	S840P	probably damaging	Het
Prkcq	A	T	2: 11,256,203	K355N	probably benign	Het
Ptprg	A	G	14: 12,237,809	K1422R	probably benign	Het
Ptprq	T	C	10: 107,542,662	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,795,389		probably null	Het
Rcor2	A	T	19: 7,274,226	T412S	probably benign	Het
Rnf224	A	T	2: 25,236,188	M51K	probably benign	Het
Robo4	A	G	9: 37,406,213	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,176,799	S360T	unknown	Het
Sgo2b	T	C	8: 63,927,617	D727G	probably damaging	Het
Smpd2	C	A	10: 41,488,287	V172L	probably benign	Het
Syne1	C	T	10: 5,323,887	A1966T	probably benign	Het
Syt13	G	A	2: 92,915,230	G15D	possibly damaging	Het
Taf3	A	T	2: 9,918,259	L18Q	unknown	Het
Tcam1	T	A	11: 106,285,433	N328K	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tet2	A	T	3: 133,488,006	Y222*	probably null	Het
Timm29	A	T	9: 21,592,922		probably benign	Het
Tmc6	T	C	11: 117,779,169	D17G	probably benign	Het
Tmem30a	T	A	9: 79,780,644	D81V	probably benign	Het
Tnnt1	T	C	7: 4,508,502	I195V	probably benign	Het
Ttc30b	T	C	2: 75,937,800	Y203C	probably damaging	Het
Ttll5	T	A	12: 85,892,122	V398E	possibly damaging	Het
Ttn	T	C	2: 76,918,097	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,387,447	I272T	probably damaging	Het
Uhrf1bp1	T	A	17: 27,886,779	S760T	probably benign	Het
Unc45a	A	G	7: 80,334,037	L337P	probably damaging	Het
Vmn1r229	T	C	17: 20,815,053	F187L	probably benign	Het
Wrn	A	T	8: 33,324,273	M381K	probably benign	Het
Zdbf2	A	G	1: 63,303,476	N338S	possibly damaging	Het
Zfp541	A	G	7: 16,071,967	E9G	possibly damaging	Het
Zrsr1	G	A	11: 22,973,418	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,722,163	S1614T	probably benign	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
R9625:Fam171b	UTSW	2	83853570	missense	probably damaging	1.00
R9784:Fam171b	UTSW	2	83860443	missense	probably damaging	0.99
RF001:Fam171b	UTSW	2	83812886	small insertion	probably benign
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'- ATCACCTTGCAGAGCACTTGC -3'
(R):5'- CAAAGTAGAGGATGCCCCAG -3'

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

Posted On

2022-09-12