Mutagenetix > Incidental Mutation

Incidental Mutation 'R7958:Fam171a1'

649930

Institutional Source

Beutler Lab

Gene Symbol

Fam171a1

Ensembl Gene

ENSMUSG00000050530

Gene Name

family with sequence similarity 171, member A1

Synonyms

MMRRC Submission

046002-MU

Accession Numbers

Essential gene?

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

Stock #

R7958 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3114224-3227806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3178261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 41 (S41R)

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: S36R

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

SMART Domains

Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: S36R

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

probably damaging
Transcript: ENSMUST00000091505
AA Change: S41R

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

SMART Domains

Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
AA Change: S41R

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: S41R

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

SMART Domains

Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: S41R

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,170,325	E183G	unknown	Het
4930590J08Rik	A	T	6: 91,934,483	T571S	probably benign	Het
Abca8a	A	G	11: 110,031,672	Y1362H	probably damaging	Het
Aldh1l2	C	T	10: 83,520,338	V63I	probably benign	Het
Alg8	T	C	7: 97,386,921	C340R	possibly damaging	Het
BC028528	T	C	3: 95,888,912	D46G	probably benign	Het
Cdh5	A	T	8: 104,113,017	H40L	probably benign	Het
Cul3	T	C	1: 80,271,557	T666A	probably benign	Het
Cwc27	T	C	13: 104,804,964	D150G	probably benign	Het
Cyp2a12	T	A	7: 27,029,252	N49K	probably benign	Het
Dhrs4	T	C	14: 55,487,621	L191P	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Fam186a	A	T	15: 99,943,308	L1685H	probably damaging	Het
Fgfr1	G	T	8: 25,532,342	W2L	probably benign	Het
Fpr-rs6	T	A	17: 20,182,443	I219F	probably damaging	Het
Gm28360	T	A	1: 117,853,679	C133*	probably null	Het
Herc1	A	G	9: 66,486,193	D4118G	probably damaging	Het
Hhatl	A	G	9: 121,784,586		probably null	Het
Inpp4b	T	A	8: 81,969,589	L384H	probably damaging	Het
Klhl12	G	A	1: 134,467,717	R139K	probably benign	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Krtap19-4	A	G	16: 88,884,945	F41S	unknown	Het
Lifr	T	C	15: 7,181,997	V672A	possibly damaging	Het
Lrrc25	A	G	8: 70,617,847	T93A	possibly damaging	Het
Map7	T	A	10: 20,229,829	S9T	unknown	Het
Mycbp2	A	T	14: 103,129,964	F4281L	probably benign	Het
Myh10	A	G	11: 68,721,347	I162V	probably benign	Het
Myo18a	T	C	11: 77,841,557	V1293A	probably damaging	Het
Nipbl	A	G	15: 8,311,258	S1993P	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Oas2	C	T	5: 120,748,766	E112K	probably benign	Het
Olfr151	A	G	9: 37,730,386	F199S	probably damaging	Het
Oosp3	A	T	19: 11,705,456	I163F	probably benign	Het
Phkb	G	T	8: 86,021,663	E710D	probably benign	Het
Plekhg4	A	T	8: 105,376,649	D318V	possibly damaging	Het
Ptprj	T	C	2: 90,469,627	I277V	possibly damaging	Het
Ranbp17	A	G	11: 33,487,702	S179P	probably damaging	Het
Scaf8	G	A	17: 3,171,122	V295M	unknown	Het
Scn3a	T	A	2: 65,506,193	I690F	probably damaging	Het
Serpinb1b	A	T	13: 33,089,653	K110N	possibly damaging	Het
Sgsh	T	C	11: 119,352,773	N41S	probably damaging	Het
Sh2d1b1	A	G	1: 170,283,135	T67A	probably benign	Het
Skint5	A	T	4: 113,623,783	L958M	unknown	Het
Spg11	T	A	2: 122,092,945		probably null	Het
Spo11	T	A	2: 172,984,022	D84E	probably benign	Het
Spta1	G	A	1: 174,174,390	E29K	probably benign	Het
Srrm2	T	C	17: 23,821,312	V2310A	probably benign	Het
Tbc1d30	C	A	10: 121,272,057	R480L	probably benign	Het
Tbpl2	A	T	2: 24,095,067		probably null	Het
Tjp3	C	T	10: 81,282,994	V69I	possibly damaging	Het
Ube3b	T	C	5: 114,401,423	V425A	probably benign	Het
Vmn1r151	A	T	7: 22,499,067	S204R	probably damaging	Het
Vmn1r42	A	T	6: 89,845,077	I170N	probably damaging	Het
Vmn1r65	A	G	7: 6,008,255	S327P	probably benign	Het
Vmn2r104	T	C	17: 20,042,726	I158V	probably benign	Het
Wdr49	T	A	3: 75,431,147	M21L	probably benign	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
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
R8865:Fam171a1	UTSW	2	3225903	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'- GAAAATGACCAGGGGACTCC -3'
(R):5'- GTAATCGGATGGGCTTCCAC -3'

Sequencing Primer
(F):5'- GAAGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CTTCCACGGGGCAGAGTTTG -3'

Posted On

2020-09-15