Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Fam171a1'

597339

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

045809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3178317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 60 (Q60L)

Ref Sequence

ENSEMBL: ENSMUSP00000110751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062934] [ENSMUST00000072955] [ENSMUST00000091505] [ENSMUST00000115099]

AlphaFold

A2ATK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062934
AA Change: Q55L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: Q55L

Domain	Start	End	E-Value	Type
Pfam:UPF0560	29	885	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072955

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530

Domain	Start	End	E-Value	Type
Pfam:UPF0560	1	765	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091505
AA Change: Q60L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
AA Change: Q60L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:UPF0560	34	294	3.1e-146	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115099
AA Change: Q60L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: Q60L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:UPF0560	34	890	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,184,107 (GRCm38)	T1377A	probably damaging	Het
AI661453	G	T	17: 47,467,514 (GRCm38)	E722*	probably null	Het
Ap2b1	A	T	11: 83,367,907 (GRCm38)	K735*	probably null	Het
Aqp4	T	C	18: 15,399,976 (GRCm38)	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,752,458 (GRCm38)	V117L	probably benign	Het
C1rb	A	G	6: 124,580,431 (GRCm38)	N509S	probably benign	Het
Cep44	A	G	8: 56,532,807 (GRCm38)	V350A	probably benign	Het
Cmya5	T	C	13: 93,098,172 (GRCm38)	Q136R	probably benign	Het
Cntrl	T	C	2: 35,111,679 (GRCm38)	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,556,963 (GRCm38)	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,493,664 (GRCm38)	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,751,193 (GRCm38)	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,171,436 (GRCm38)	D294G	probably benign	Het
Ddx10	A	T	9: 53,225,604 (GRCm38)	L336Q	probably damaging	Het
Dop1a	A	G	9: 86,489,702 (GRCm38)	T149A	possibly damaging	Het
Epg5	A	G	18: 77,948,345 (GRCm38)	T86A	possibly damaging	Het
Farsb	T	A	1: 78,480,103 (GRCm38)	E41D	probably benign	Het
Frem1	T	C	4: 82,913,980 (GRCm38)	D1956G	probably benign	Het
Fzd4	T	A	7: 89,407,784 (GRCm38)	Y346*	probably null	Het
Fzd7	A	T	1: 59,483,482 (GRCm38)	S175C	probably benign	Het
Gdi2	A	G	13: 3,548,956 (GRCm38)	T47A	probably benign	Het
Gpr155	A	T	2: 73,382,206 (GRCm38)	H24Q	probably benign	Het
Hdac7	A	T	15: 97,800,761 (GRCm38)	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,806,488 (GRCm38)	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,824,972 (GRCm38)	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,451,260 (GRCm38)	R223*	probably null	Het
Igkv4-91	T	G	6: 68,768,777 (GRCm38)	S46R	probably benign	Het
Itk	T	A	11: 46,331,895 (GRCm38)	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,396,761 (GRCm38)	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 142,175,399 (GRCm38)		probably benign	Het
Lce1m	C	A	3: 93,018,508 (GRCm38)	G41W	unknown	Het
Mapk10	T	A	5: 103,038,553 (GRCm38)	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,461,653 (GRCm38)	E812G	probably damaging	Het
Mlh1	C	A	9: 111,252,863 (GRCm38)		probably null	Het
Mroh1	A	G	15: 76,433,275 (GRCm38)	D784G	possibly damaging	Het
Neo1	A	T	9: 58,956,005 (GRCm38)	D426E	probably benign	Het
Nol4	T	A	18: 23,038,602 (GRCm38)	M1L	probably benign	Het
Nr1h3	A	G	2: 91,185,025 (GRCm38)	F338S	probably damaging	Het
Oasl2	A	G	5: 114,905,057 (GRCm38)	K297E	probably benign	Het
Or10ag59	A	G	2: 87,575,797 (GRCm38)	T238A	probably benign	Het
Or10z1	C	T	1: 174,250,670 (GRCm38)	V86I	probably benign	Het
Or4f14	A	G	2: 111,912,582 (GRCm38)	I116T	probably benign	Het
Or56a5	T	C	7: 105,143,800 (GRCm38)	I164M	probably benign	Het
Or5m5	A	G	2: 85,984,716 (GRCm38)	N292S	possibly damaging	Het
Osbpl9	T	C	4: 109,133,773 (GRCm38)	T97A	possibly damaging	Het
P3h2	A	T	16: 25,970,937 (GRCm38)	Y527N	probably damaging	Het
Papss2	A	T	19: 32,620,179 (GRCm38)	H9L	probably benign	Het
Pcdha4	C	A	18: 36,953,301 (GRCm38)	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,836,338 (GRCm38)	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,272,968 (GRCm38)	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,827,253 (GRCm38)	L1633I	probably damaging	Het
Prss51	T	A	14: 64,095,927 (GRCm38)	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,457,042 (GRCm38)		probably benign	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Slc2a7	T	C	4: 150,154,684 (GRCm38)	I122T	possibly damaging	Het
Spata31e4	A	T	13: 50,701,781 (GRCm38)	D485V	probably damaging	Het
Sprr3	G	A	3: 92,457,108 (GRCm38)	P143L	probably benign	Het
Sugct	A	T	13: 17,577,519 (GRCm38)	S181T	possibly damaging	Het
Syne2	G	A	12: 76,038,923 (GRCm38)	R141Q	probably benign	Het
Taok1	T	C	11: 77,537,899 (GRCm38)	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,362,023 (GRCm38)		probably null	Het
Thada	T	C	17: 84,252,390 (GRCm38)	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,902,156 (GRCm38)	L104S	probably damaging	Het
Tln2	T	G	9: 67,395,473 (GRCm38)	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,814,311 (GRCm38)	E75G	probably damaging	Het
Tox3	A	G	8: 90,248,932 (GRCm38)	L357P	probably damaging	Het
Ubr4	T	C	4: 139,470,292 (GRCm38)	V4492A	unknown	Het
Ulk4	A	G	9: 121,266,512 (GRCm38)		probably null	Het
Ush2a	A	G	1: 188,443,406 (GRCm38)	T1234A	probably benign	Het
Usp53	G	A	3: 122,949,238 (GRCm38)	T683I	probably damaging	Het
Vcan	T	A	13: 89,689,323 (GRCm38)	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,750,626 (GRCm38)	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,586,401 (GRCm38)	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,263,040 (GRCm38)	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,447,157 (GRCm38)	D785G	probably benign	Het
Zfp397	A	T	18: 23,957,072 (GRCm38)	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,915,805 (GRCm38)	T1393S	possibly damaging	Het

Other mutations in Fam171a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Fam171a1	APN	2	3,178,290 (GRCm38)	missense	possibly damaging	0.90
IGL01138:Fam171a1	APN	2	3,202,620 (GRCm38)	missense	possibly damaging	0.80
IGL01317:Fam171a1	APN	2	3,202,626 (GRCm38)	missense	probably damaging	1.00
IGL02377:Fam171a1	APN	2	3,223,586 (GRCm38)	critical splice donor site	probably null
IGL02475:Fam171a1	APN	2	3,223,490 (GRCm38)	missense	possibly damaging	0.53
IGL02477:Fam171a1	APN	2	3,202,575 (GRCm38)	missense	possibly damaging	0.83
ghosted	UTSW	2	3,225,152 (GRCm38)	nonsense	probably null
R0167:Fam171a1	UTSW	2	3,186,432 (GRCm38)	missense	probably damaging	1.00
R0426:Fam171a1	UTSW	2	3,225,396 (GRCm38)	missense	probably benign
R0468:Fam171a1	UTSW	2	3,225,396 (GRCm38)	missense	probably benign
R0811:Fam171a1	UTSW	2	3,197,427 (GRCm38)	missense	probably damaging	1.00
R0812:Fam171a1	UTSW	2	3,197,427 (GRCm38)	missense	probably damaging	1.00
R1099:Fam171a1	UTSW	2	3,225,317 (GRCm38)	missense	probably benign	0.24
R1694:Fam171a1	UTSW	2	3,225,623 (GRCm38)	missense	probably benign	0.00
R1817:Fam171a1	UTSW	2	3,178,373 (GRCm38)	missense	probably benign	0.04
R1869:Fam171a1	UTSW	2	3,226,152 (GRCm38)	missense	possibly damaging	0.53
R1887:Fam171a1	UTSW	2	3,220,343 (GRCm38)	missense	probably damaging	1.00
R2173:Fam171a1	UTSW	2	3,225,619 (GRCm38)	nonsense	probably null
R2355:Fam171a1	UTSW	2	3,225,533 (GRCm38)	nonsense	probably null
R3690:Fam171a1	UTSW	2	3,226,356 (GRCm38)	missense	probably benign
R3723:Fam171a1	UTSW	2	3,220,375 (GRCm38)	splice site	probably benign
R3978:Fam171a1	UTSW	2	3,225,035 (GRCm38)	missense	probably benign
R4087:Fam171a1	UTSW	2	3,226,296 (GRCm38)	missense	probably damaging	0.97
R4647:Fam171a1	UTSW	2	3,220,291 (GRCm38)	missense	probably damaging	0.98
R4744:Fam171a1	UTSW	2	3,224,909 (GRCm38)	missense	probably damaging	1.00
R4777:Fam171a1	UTSW	2	3,223,513 (GRCm38)	missense	probably benign	0.03
R4786:Fam171a1	UTSW	2	3,225,578 (GRCm38)	missense	probably damaging	1.00
R4888:Fam171a1	UTSW	2	3,223,509 (GRCm38)	missense	probably damaging	0.98
R4982:Fam171a1	UTSW	2	3,178,468 (GRCm38)	splice site	probably null
R5137:Fam171a1	UTSW	2	3,225,389 (GRCm38)	missense	probably benign	0.01
R5203:Fam171a1	UTSW	2	3,223,545 (GRCm38)	missense	probably damaging	0.99
R5233:Fam171a1	UTSW	2	3,178,353 (GRCm38)	missense	probably damaging	1.00
R5304:Fam171a1	UTSW	2	3,225,617 (GRCm38)	missense	probably damaging	1.00
R5475:Fam171a1	UTSW	2	3,225,297 (GRCm38)	missense	possibly damaging	0.91
R5682:Fam171a1	UTSW	2	3,226,089 (GRCm38)	missense	probably damaging	1.00
R5865:Fam171a1	UTSW	2	3,225,337 (GRCm38)	missense	probably benign	0.01
R6322:Fam171a1	UTSW	2	3,226,355 (GRCm38)	missense	probably benign	0.24
R7082:Fam171a1	UTSW	2	3,223,475 (GRCm38)	missense	probably benign	0.00
R7141:Fam171a1	UTSW	2	3,225,152 (GRCm38)	nonsense	probably null
R7155:Fam171a1	UTSW	2	3,225,729 (GRCm38)	missense	probably benign	0.10
R7243:Fam171a1	UTSW	2	3,118,616 (GRCm38)	missense	probably benign	0.07
R7326:Fam171a1	UTSW	2	3,226,472 (GRCm38)	nonsense	probably null
R7477:Fam171a1	UTSW	2	3,225,639 (GRCm38)	missense	probably benign	0.03
R7574:Fam171a1	UTSW	2	3,220,354 (GRCm38)	missense	probably damaging	1.00
R7745:Fam171a1	UTSW	2	3,225,446 (GRCm38)	missense	possibly damaging	0.53
R7871:Fam171a1	UTSW	2	3,225,384 (GRCm38)	missense	probably benign	0.12
R7958:Fam171a1	UTSW	2	3,178,261 (GRCm38)	missense	probably damaging	1.00
R8677:Fam171a1	UTSW	2	3,220,315 (GRCm38)	missense	probably damaging	0.98
R8793:Fam171a1	UTSW	2	3,186,498 (GRCm38)	missense	probably damaging	1.00
R8850:Fam171a1	UTSW	2	3,220,307 (GRCm38)	missense	probably damaging	1.00
R8865:Fam171a1	UTSW	2	3,225,903 (GRCm38)	missense	probably damaging	1.00
R9016:Fam171a1	UTSW	2	3,226,397 (GRCm38)	missense	probably benign	0.43
R9090:Fam171a1	UTSW	2	3,223,506 (GRCm38)	missense	probably damaging	1.00
R9251:Fam171a1	UTSW	2	3,225,488 (GRCm38)	missense	probably benign	0.06
R9271:Fam171a1	UTSW	2	3,223,506 (GRCm38)	missense	probably damaging	1.00
R9350:Fam171a1	UTSW	2	3,225,000 (GRCm38)	missense	probably benign	0.12
X0019:Fam171a1	UTSW	2	3,225,593 (GRCm38)	missense	probably benign	0.19
Z1177:Fam171a1	UTSW	2	3,224,934 (GRCm38)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGGGTCAGAATTCCTTGTAAAAG -3'
(R):5'- GCATCAGTGTCTGATCTCATCATG -3'

Sequencing Primer
(F):5'- AGAATGTAGTCCTAGACGTACTTAAC -3'
(R):5'- TGATCTCATCATGGGCCACCG -3'

Posted On

2019-11-26