Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Fam171a1'

675839

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3225903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 691 (K691R)

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: K686R

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

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: K686R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000072955
AA Change: K566R

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

SMART Domains

Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: K566R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091505

SMART Domains

Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530

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: K691R

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

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: K691R

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

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Fam171a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Fam171a1	APN	2	3178290	missense	possibly damaging	0.90
IGL01138:Fam171a1	APN	2	3202620	missense	possibly damaging	0.80
IGL01317:Fam171a1	APN	2	3202626	missense	probably damaging	1.00
IGL02377:Fam171a1	APN	2	3223586	critical splice donor site	probably null
IGL02475:Fam171a1	APN	2	3223490	missense	possibly damaging	0.53
IGL02477:Fam171a1	APN	2	3202575	missense	possibly damaging	0.83
ghosted	UTSW	2	3225152	nonsense	probably null
R0167:Fam171a1	UTSW	2	3186432	missense	probably damaging	1.00
R0426:Fam171a1	UTSW	2	3225396	missense	probably benign
R0468:Fam171a1	UTSW	2	3225396	missense	probably benign
R0811:Fam171a1	UTSW	2	3197427	missense	probably damaging	1.00
R0812:Fam171a1	UTSW	2	3197427	missense	probably damaging	1.00
R1099:Fam171a1	UTSW	2	3225317	missense	probably benign	0.24
R1694:Fam171a1	UTSW	2	3225623	missense	probably benign	0.00
R1817:Fam171a1	UTSW	2	3178373	missense	probably benign	0.04
R1869:Fam171a1	UTSW	2	3226152	missense	possibly damaging	0.53
R1887:Fam171a1	UTSW	2	3220343	missense	probably damaging	1.00
R2173:Fam171a1	UTSW	2	3225619	nonsense	probably null
R2355:Fam171a1	UTSW	2	3225533	nonsense	probably null
R3690:Fam171a1	UTSW	2	3226356	missense	probably benign
R3723:Fam171a1	UTSW	2	3220375	splice site	probably benign
R3978:Fam171a1	UTSW	2	3225035	missense	probably benign
R4087:Fam171a1	UTSW	2	3226296	missense	probably damaging	0.97
R4647:Fam171a1	UTSW	2	3220291	missense	probably damaging	0.98
R4744:Fam171a1	UTSW	2	3224909	missense	probably damaging	1.00
R4777:Fam171a1	UTSW	2	3223513	missense	probably benign	0.03
R4786:Fam171a1	UTSW	2	3225578	missense	probably damaging	1.00
R4888:Fam171a1	UTSW	2	3223509	missense	probably damaging	0.98
R4982:Fam171a1	UTSW	2	3178468	splice site	probably null
R5137:Fam171a1	UTSW	2	3225389	missense	probably benign	0.01
R5203:Fam171a1	UTSW	2	3223545	missense	probably damaging	0.99
R5233:Fam171a1	UTSW	2	3178353	missense	probably damaging	1.00
R5304:Fam171a1	UTSW	2	3225617	missense	probably damaging	1.00
R5475:Fam171a1	UTSW	2	3225297	missense	possibly damaging	0.91
R5682:Fam171a1	UTSW	2	3226089	missense	probably damaging	1.00
R5865:Fam171a1	UTSW	2	3225337	missense	probably benign	0.01
R6322:Fam171a1	UTSW	2	3226355	missense	probably benign	0.24
R7082:Fam171a1	UTSW	2	3223475	missense	probably benign	0.00
R7141:Fam171a1	UTSW	2	3225152	nonsense	probably null
R7155:Fam171a1	UTSW	2	3225729	missense	probably benign	0.10
R7243:Fam171a1	UTSW	2	3118616	missense	probably benign	0.07
R7326:Fam171a1	UTSW	2	3226472	nonsense	probably null
R7477:Fam171a1	UTSW	2	3225639	missense	probably benign	0.03
R7574:Fam171a1	UTSW	2	3220354	missense	probably damaging	1.00
R7745:Fam171a1	UTSW	2	3225446	missense	possibly damaging	0.53
R7753:Fam171a1	UTSW	2	3178317	missense	probably damaging	0.98
R7871:Fam171a1	UTSW	2	3225384	missense	probably benign	0.12
R7958:Fam171a1	UTSW	2	3178261	missense	probably damaging	1.00
R8677:Fam171a1	UTSW	2	3220315	missense	probably damaging	0.98
R8793:Fam171a1	UTSW	2	3186498	missense	probably damaging	1.00
R8850:Fam171a1	UTSW	2	3220307	missense	probably damaging	1.00
R9016:Fam171a1	UTSW	2	3226397	missense	probably benign	0.43
R9090:Fam171a1	UTSW	2	3223506	missense	probably damaging	1.00
R9251:Fam171a1	UTSW	2	3225488	missense	probably benign	0.06
R9271:Fam171a1	UTSW	2	3223506	missense	probably damaging	1.00
R9350:Fam171a1	UTSW	2	3225000	missense	probably benign	0.12
X0019:Fam171a1	UTSW	2	3225593	missense	probably benign	0.19
Z1177:Fam171a1	UTSW	2	3224934	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCTGGAAATAGGAAGGCTCC -3'
(R):5'- GGTTCATTCATATCCACACCAGAG -3'

Sequencing Primer
(F):5'- TCCTCTCAGATCCAAGGCCAG -3'
(R):5'- GAGTCCAAACTGGCATCATTACTTC -3'

Posted On

2021-07-15