Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4378001:Fam160a1'

554974

Institutional Source

Beutler Lab

Gene Symbol

Fam160a1

Ensembl Gene

ENSMUSG00000051000

Gene Name

family with sequence similarity 160, member A1

Synonyms

9930021J17Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4378001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85660061-85817291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85730551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 147 (L147P)

Ref Sequence

ENSEMBL: ENSMUSP00000091700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094148] [ENSMUST00000118408] [ENSMUST00000119077] [ENSMUST00000154148]

AlphaFold

Q505K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000094148
AA Change: L147P

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

SMART Domains

Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: L147P

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.2e-102	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118408
AA Change: L147P

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

SMART Domains

Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: L147P

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	88	411	1.1e-98	PFAM
low complexity region	483	500	N/A	INTRINSIC
low complexity region	613	622	N/A	INTRINSIC
low complexity region	838	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119077

SMART Domains

Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000

Domain	Start	End	E-Value	Type
low complexity region	67	84	N/A	INTRINSIC
low complexity region	197	206	N/A	INTRINSIC
low complexity region	422	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.0%
20x: 72.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,015,207	L14P	probably damaging	Het
2310033P09Rik	T	C	11: 59,208,976	V100A	probably benign	Het
9530053A07Rik	G	A	7: 28,154,464	D1618N	possibly damaging	Het
Adamtsl1	T	C	4: 86,199,364	V188A	possibly damaging	Het
Aldh6a1	T	C	12: 84,441,872	D80G	probably benign	Het
Ankrd50	T	C	3: 38,455,263	Q62R	possibly damaging	Het
Arrdc1	T	A	2: 24,926,633	Y177F	probably damaging	Het
Asap1	C	T	15: 64,135,848	R384Q	probably damaging	Het
Atxn2l	A	T	7: 126,497,271	V433D	probably benign	Het
Bbs1	G	A	19: 4,891,675	A529V	probably benign	Het
Bbx	G	A	16: 50,280,473	R20*	probably null	Het
Bend5	T	C	4: 111,431,107	V106A	probably benign	Het
C1galt1	A	G	6: 7,863,944	N8S	probably benign	Het
Cdc42ep1	G	A	15: 78,849,680	D327N	possibly damaging	Het
Cep162	A	G	9: 87,217,145	S767P	probably benign	Het
Csmd1	T	C	8: 15,895,728	T3562A	probably damaging	Het
Dnah7a	A	G	1: 53,531,203	S1815P	probably damaging	Het
Ei24	A	T	9: 36,786,024	L136Q	probably damaging	Het
Extl2	T	G	3: 116,010,690	M1R	probably null	Het
Fat3	T	C	9: 16,376,808	E473G	probably benign	Het
Fgfr1op	T	C	17: 8,182,273	S209P	probably damaging	Het
G6pc3	T	A	11: 102,190,001	W26R	probably damaging	Het
Hc	T	A	2: 35,031,864	Y610F	probably benign	Het
Hecw1	T	C	13: 14,377,783	D77G	probably damaging	Het
Hgf	T	C	5: 16,611,862	V497A	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hyou1	A	C	9: 44,390,851	D968A	probably benign	Het
Jmjd1c	T	A	10: 67,229,913	S1525T	probably damaging	Het
Kcnc4	G	A	3: 107,447,563	T523I	probably benign	Het
Kcng1	C	T	2: 168,262,684	C414Y	probably damaging	Het
Klhdc10	T	C	6: 30,447,412	I204T	probably damaging	Het
Krt18	A	T	15: 102,029,923	T194S	probably benign	Het
Krt76	A	C	15: 101,892,407	N151K	probably damaging	Het
Krtap31-2	A	G	11: 99,936,716	T125A	possibly damaging	Het
Lama5	A	G	2: 180,189,445	V1807A	possibly damaging	Het
Lats1	T	G	10: 7,705,605	V718G	probably damaging	Het
Mef2b	A	G	8: 70,164,260	K4E	probably damaging	Het
Mertk	T	C	2: 128,782,617		probably null	Het
Mroh8	A	G	2: 157,228,700	V577A	possibly damaging	Het
Mtcl1	T	G	17: 66,438,279	N381T	probably damaging	Het
Nfyc	T	A	4: 120,790,491		probably null	Het
Nol4	C	A	18: 23,039,876	W56L	probably damaging	Het
Notch2	A	T	3: 98,142,956	D1849V	probably damaging	Het
Olfr1406	T	C	1: 173,183,814	T207A	probably benign	Het
Olfr1436	A	G	19: 12,298,712	M140T	probably damaging	Het
Olfr284	A	G	15: 98,340,272	V239A	possibly damaging	Het
Olfr287	G	A	15: 98,207,571	T271I	probably damaging	Het
Olfr297	A	T	7: 86,527,098	T114S	possibly damaging	Het
Olfr733	T	C	14: 50,298,898	N137S	probably benign	Het
Olfr846	T	A	9: 19,361,175	Y60F	probably damaging	Het
Oxr1	G	A	15: 41,801,582	V138I	probably benign	Het
Pars2	A	G	4: 106,654,293	E424G	possibly damaging	Het
Peli2	C	A	14: 48,168,269	Y50*	probably null	Het
Plag1	T	A	4: 3,905,492	H66L	probably benign	Het
Psme4	T	C	11: 30,821,079		probably benign	Het
Robo1	A	T	16: 73,004,535	S1016C	probably damaging	Het
Rrbp1	A	G	2: 143,974,540	V723A	probably benign	Het
Sgip1	C	A	4: 102,921,083	D292E	unknown	Het
Skint4	T	A	4: 112,087,035	C23S	probably benign	Het
Slc22a28	A	C	19: 8,071,914	S323R	probably damaging	Het
Slc41a3	A	G	6: 90,640,909	T306A	probably benign	Het
Spata13	A	G	14: 60,749,996	M868V	probably damaging	Het
Spata6	T	G	4: 111,746,181	I31S	possibly damaging	Het
Sycp3	A	T	10: 88,466,504	K119*	probably null	Het
Tlk2	T	A	11: 105,281,220	S739T	unknown	Het
Trim10	T	C	17: 36,877,128	V412A	probably damaging	Het
Ttc3	T	A	16: 94,410,906	F377I	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Unc5a	T	C	13: 54,995,868	Y122H	possibly damaging	Het
Uncx	C	T	5: 139,544,622	R152*	probably null	Het
Usp44	A	G	10: 93,845,655		probably benign	Het
Vamp2	A	C	11: 69,089,738	D44A	probably benign	Het
Vmn2r83	A	G	10: 79,469,015	T20A	probably benign	Het
Vmn2r84	A	T	10: 130,385,915	I812N	probably damaging	Het
Vrtn	T	G	12: 84,649,169	L231R	probably damaging	Het
Wdr75	A	G	1: 45,820,173	T677A	probably damaging	Het
Xylt1	C	A	7: 117,548,865	S221R	possibly damaging	Het
Zscan22	A	G	7: 12,904,056	E125G	possibly damaging	Het
Zxdc	A	T	6: 90,373,716	H383L	probably damaging	Het

Other mutations in Fam160a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Fam160a1	APN	3	85672618	missense	probably benign	0.01
IGL01102:Fam160a1	APN	3	85665501	intron	probably benign
IGL01317:Fam160a1	APN	3	85672846	missense	probably benign	0.01
IGL01759:Fam160a1	APN	3	85688447	missense	probably damaging	1.00
IGL02007:Fam160a1	APN	3	85722445	missense	probably damaging	1.00
IGL02037:Fam160a1	APN	3	85730632	missense	probably damaging	0.99
IGL02163:Fam160a1	APN	3	85688552	missense	possibly damaging	0.92
IGL02192:Fam160a1	APN	3	85673326	missense	possibly damaging	0.82
IGL02617:Fam160a1	APN	3	85673037	missense	probably benign	0.00
PIT4520001:Fam160a1	UTSW	3	85672472	nonsense	probably null
PIT4651001:Fam160a1	UTSW	3	85683641	missense	probably damaging	1.00
R0590:Fam160a1	UTSW	3	85672376	missense	probably benign	0.13
R0625:Fam160a1	UTSW	3	85730500	missense	possibly damaging	0.84
R0648:Fam160a1	UTSW	3	85730614	missense	probably damaging	1.00
R0931:Fam160a1	UTSW	3	85673243	missense	probably benign
R0940:Fam160a1	UTSW	3	85665490	missense	possibly damaging	0.92
R0941:Fam160a1	UTSW	3	85673059	missense	probably benign	0.03
R1115:Fam160a1	UTSW	3	85722495	missense	probably benign	0.02
R1161:Fam160a1	UTSW	3	85672468	missense	probably damaging	0.96
R1460:Fam160a1	UTSW	3	85730876	missense	probably damaging	1.00
R1503:Fam160a1	UTSW	3	85672477	missense	possibly damaging	0.70
R1545:Fam160a1	UTSW	3	85665954	missense	probably damaging	1.00
R1820:Fam160a1	UTSW	3	85665829	missense	probably damaging	1.00
R1907:Fam160a1	UTSW	3	85672633	missense	probably benign	0.00
R1911:Fam160a1	UTSW	3	85661218	missense	probably benign	0.12
R1928:Fam160a1	UTSW	3	85688531	missense	probably damaging	1.00
R2200:Fam160a1	UTSW	3	85730321	missense	probably damaging	1.00
R2235:Fam160a1	UTSW	3	85661101	missense	probably damaging	0.97
R2373:Fam160a1	UTSW	3	85676097	nonsense	probably null
R3084:Fam160a1	UTSW	3	85665968	critical splice acceptor site	probably null
R4125:Fam160a1	UTSW	3	85665383	missense	possibly damaging	0.87
R4601:Fam160a1	UTSW	3	85741180	missense	probably damaging	1.00
R4612:Fam160a1	UTSW	3	85730372	nonsense	probably null
R4665:Fam160a1	UTSW	3	85730681	missense	probably damaging	1.00
R4673:Fam160a1	UTSW	3	85730713	missense	probably damaging	1.00
R4707:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4783:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4785:Fam160a1	UTSW	3	85688570	missense	probably damaging	1.00
R4825:Fam160a1	UTSW	3	85673432	missense	possibly damaging	0.93
R4884:Fam160a1	UTSW	3	85683611	missense	probably damaging	1.00
R5653:Fam160a1	UTSW	3	85722501	missense	probably damaging	1.00
R5663:Fam160a1	UTSW	3	85672433	missense	probably benign
R5764:Fam160a1	UTSW	3	85665865	missense	probably damaging	1.00
R6134:Fam160a1	UTSW	3	85673344	missense	possibly damaging	0.93
R6284:Fam160a1	UTSW	3	85672688	missense	probably benign	0.01
R6789:Fam160a1	UTSW	3	85672558	nonsense	probably null
R6843:Fam160a1	UTSW	3	85673045	missense	probably damaging	0.96
R7305:Fam160a1	UTSW	3	85730524	missense	probably damaging	1.00
R7406:Fam160a1	UTSW	3	85730477	missense	probably benign	0.13
R7448:Fam160a1	UTSW	3	85672564	missense	probably benign	0.00
R7469:Fam160a1	UTSW	3	85672762	missense	probably benign	0.00
R7578:Fam160a1	UTSW	3	85665898	missense	probably damaging	0.99
R7707:Fam160a1	UTSW	3	85676253	missense	probably benign	0.21
R8071:Fam160a1	UTSW	3	85730561	missense	probably damaging	1.00
R8093:Fam160a1	UTSW	3	85672804	missense	probably benign	0.01
R8151:Fam160a1	UTSW	3	85688540	missense	probably damaging	1.00
R8391:Fam160a1	UTSW	3	85688481	missense	probably damaging	0.98
R8406:Fam160a1	UTSW	3	85672720	missense	probably benign	0.02
R8774:Fam160a1	UTSW	3	85672790	missense	probably benign	0.00
R8774-TAIL:Fam160a1	UTSW	3	85672790	missense	probably benign	0.00
R8843:Fam160a1	UTSW	3	85661011	missense	possibly damaging	0.89
R9079:Fam160a1	UTSW	3	85672283	nonsense	probably null
R9277:Fam160a1	UTSW	3	85672258	missense	probably benign	0.25
R9302:Fam160a1	UTSW	3	85672634	missense	probably damaging	0.99
R9324:Fam160a1	UTSW	3	85730746	missense	probably benign	0.16
R9494:Fam160a1	UTSW	3	85676258	nonsense	probably null
R9516:Fam160a1	UTSW	3	85673252	nonsense	probably null
R9638:Fam160a1	UTSW	3	85661084	missense	probably damaging	0.99
R9654:Fam160a1	UTSW	3	85672225	missense	probably damaging	1.00
Z1176:Fam160a1	UTSW	3	85673201	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCCCTCTCGATGAATGAAG -3'
(R):5'- TGCTAATCGAAGAGCAAGCC -3'

Sequencing Primer
(F):5'- CCCTCTCGATGAATGAAGGGTATC -3'
(R):5'- CCAATCCTGGAATTTGTGGTC -3'

Posted On

2019-06-07