Mutagenetix > Incidental Mutation

Incidental Mutation 'R8472:Gm6614'

657067

Institutional Source

Beutler Lab

Gene Symbol

Gm6614

Ensembl Gene

ENSMUSG00000079263

Gene Name

predicted gene 6614

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141971845-142011414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 142003389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 87 (H87P)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]

AlphaFold

M0QWR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000111832
AA Change: H87P

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

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: H87P

Domain	Start	End	E-Value	Type
Pfam:OATP	1	577	2.5e-156	PFAM
Pfam:MFS_1	125	402	1e-23	PFAM
Pfam:Kazal_2	425	466	4.1e-9	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000181628
AA Change: H107P

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

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: H107P

Domain	Start	End	E-Value	Type
Pfam:OATP	19	598	2.8e-187	PFAM
Pfam:MFS_1	145	422	8e-24	PFAM
Pfam:Kazal_2	445	486	1.1e-7	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000181791
AA Change: H87P

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

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: H87P

Domain	Start	End	E-Value	Type
Pfam:OATP	1	578	2.3e-186	PFAM
Pfam:MFS_1	125	402	8.6e-24	PFAM
Pfam:Kazal_2	425	466	1.4e-7	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,512,641	H21Q	possibly damaging	Het
Ccdc7a	A	G	8: 129,027,657	S152P	probably damaging	Het
Ccnj	T	C	19: 40,845,164	S222P	probably damaging	Het
Cdcp2	C	T	4: 107,102,784	A132V	probably damaging	Het
Cnksr3	G	T	10: 7,134,532	P71Q	probably damaging	Het
Col9a3	C	T	2: 180,605,264	P185L	probably damaging	Het
Cpm	T	C	10: 117,679,978	V319A	probably damaging	Het
Ctxn2	A	G	2: 125,147,608	I52V	possibly damaging	Het
Cyp2c66	A	T	19: 39,176,577	H334L	probably benign	Het
Dab1	A	G	4: 104,479,242	K12E	possibly damaging	Het
Emsy	T	C	7: 98,654,830		probably benign	Het
Etv4	G	T	11: 101,784,001	D56E	probably damaging	Het
Exoc3l2	C	T	7: 19,481,265	R484*	probably null	Het
Extl1	A	G	4: 134,371,292	C143R	probably benign	Het
Fat3	T	C	9: 16,375,267	I987V	possibly damaging	Het
Fbn1	A	C	2: 125,309,802	C2511G	probably damaging	Het
Fer	T	A	17: 63,973,149	S72T	probably benign	Het
Gdf2	A	G	14: 33,944,840	D173G	probably damaging	Het
Gm11639	A	T	11: 104,818,637	D1815V	probably benign	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Gria1	A	T	11: 57,327,584	M819L	probably benign	Het
Gsap	A	T	5: 21,222,434	R187*	probably null	Het
Heatr6	A	G	11: 83,765,853	N314D	probably benign	Het
Hspd1	T	C	1: 55,078,346	D555G	probably benign	Het
Ighv3-4	T	C	12: 114,254,029	Y8C	probably benign	Het
Lcmt2	A	G	2: 121,140,248	V118A	probably damaging	Het
Lmf2	T	C	15: 89,354,802	E37G	possibly damaging	Het
Macf1	A	G	4: 123,453,002	L1161P	probably damaging	Het
Mbip	T	A	12: 56,330,269		probably null	Het
Mgam	A	T	6: 40,694,526		probably null	Het
Mmrn1	G	A	6: 60,988,396	S1136N	probably damaging	Het
Mms22l	T	C	4: 24,502,943	V73A	possibly damaging	Het
Mtbp	C	T	15: 55,586,352	L24F	probably damaging	Het
Ncr1	T	A	7: 4,338,121	I37N	probably benign	Het
Nkx3-1	A	G	14: 69,192,058	N175S	probably damaging	Het
Nlrp4f	A	G	13: 65,194,331	I500T	possibly damaging	Het
Olfr397	C	T	11: 73,965,397	S263L	possibly damaging	Het
Olfr518	T	A	7: 108,880,766	Q280L	possibly damaging	Het
Olfr820	A	G	10: 130,017,576	T72A	probably damaging	Het
Pcdha2	A	G	18: 36,941,272	D652G	probably damaging	Het
Pde6a	T	A	18: 61,220,946	N114K	probably damaging	Het
Pdp2	A	G	8: 104,594,281	E254G	probably benign	Het
Pip5kl1	T	C	2: 32,580,006	V241A	probably benign	Het
Prkdc	T	A	16: 15,651,536	D168E	probably damaging	Het
Psg27	A	T	7: 18,562,090	H143Q	probably benign	Het
Serpina16	T	A	12: 103,672,537	I264F	probably benign	Het
Slc25a41	G	A	17: 57,041,582	H4Y	probably benign	Het
Smc3	T	G	19: 53,628,711	H518Q	probably benign	Het
Snrpb	G	T	2: 130,173,122	T158K	probably damaging	Het
Sobp	A	G	10: 43,022,396	F398L	probably damaging	Het
Spidr	T	A	16: 16,140,727	Q57L	probably benign	Het
Srd5a3	T	G	5: 76,149,801	V26G	possibly damaging	Het
Stx17	A	G	4: 48,166,972	T131A	probably benign	Het
Susd1	A	G	4: 59,332,985	L553P	possibly damaging	Het
Tbc1d30	C	A	10: 121,351,104	G59C	probably benign	Het
Tekt1	T	C	11: 72,352,024	D219G	possibly damaging	Het
Trav9d-1	A	T	14: 52,792,706	D89V	possibly damaging	Het
Trim34b	T	C	7: 104,331,338	I211T	probably benign	Het
Vmn1r25	A	T	6: 57,978,546	L253M	possibly damaging	Het
Vmn1r56	C	T	7: 5,195,905	V238M	probably damaging	Het
Wipf3	A	G	6: 54,489,085	I443V	probably benign	Het

Other mutations in Gm6614

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Gm6614	APN	6	141990408	missense	probably benign	0.00
IGL01548:Gm6614	APN	6	141992512	missense	possibly damaging	0.82
IGL01552:Gm6614	APN	6	141987706	missense	possibly damaging	0.54
IGL02207:Gm6614	APN	6	141990432	missense	possibly damaging	0.80
IGL02227:Gm6614	APN	6	141993675	nonsense	probably null
IGL02547:Gm6614	APN	6	141990390	missense	probably damaging	0.99
IGL02678:Gm6614	APN	6	142008718	missense	probably damaging	1.00
IGL02695:Gm6614	APN	6	141987760	missense	probably damaging	1.00
IGL02851:Gm6614	APN	6	142003471	missense	probably damaging	1.00
IGL02881:Gm6614	APN	6	141972243	missense	probably benign	0.00
IGL02898:Gm6614	APN	6	141994297	missense	probably benign	0.01
IGL03036:Gm6614	APN	6	142008607	missense	possibly damaging	0.69
IGL03065:Gm6614	APN	6	141992502	missense	probably damaging	0.99
IGL03300:Gm6614	APN	6	141994806	missense	probably damaging	0.96
R0020:Gm6614	UTSW	6	141972350	missense	possibly damaging	0.93
R0020:Gm6614	UTSW	6	141972350	missense	possibly damaging	0.93
R0049:Gm6614	UTSW	6	141990421	missense	probably benign
R0049:Gm6614	UTSW	6	141990421	missense	probably benign
R0149:Gm6614	UTSW	6	141992477	missense	probably benign	0.01
R0270:Gm6614	UTSW	6	141972411	missense	possibly damaging	0.88
R0360:Gm6614	UTSW	6	141982327	splice site	probably benign
R0420:Gm6614	UTSW	6	141985477	splice site	probably benign
R0737:Gm6614	UTSW	6	142003428	missense	possibly damaging	0.79
R1344:Gm6614	UTSW	6	141985618	missense	probably damaging	1.00
R1464:Gm6614	UTSW	6	141992517	nonsense	probably null
R1464:Gm6614	UTSW	6	141992517	nonsense	probably null
R1590:Gm6614	UTSW	6	141980872	missense	probably benign	0.00
R1666:Gm6614	UTSW	6	141982049	splice site	probably null
R1669:Gm6614	UTSW	6	141987689	missense	probably benign	0.39
R1862:Gm6614	UTSW	6	142003423	missense	possibly damaging	0.95
R1882:Gm6614	UTSW	6	141993637	critical splice donor site	probably null
R2134:Gm6614	UTSW	6	141980978	missense	probably damaging	1.00
R2155:Gm6614	UTSW	6	141980944	missense	probably damaging	1.00
R2163:Gm6614	UTSW	6	141980938	missense	possibly damaging	0.55
R2227:Gm6614	UTSW	6	141992361	missense	possibly damaging	0.67
R2382:Gm6614	UTSW	6	141990480	missense	probably benign	0.00
R3773:Gm6614	UTSW	6	141972335	missense	probably benign	0.17
R4869:Gm6614	UTSW	6	141987766	missense	probably damaging	1.00
R4975:Gm6614	UTSW	6	141980873	missense	probably benign	0.30
R5061:Gm6614	UTSW	6	142008688	missense	probably benign	0.03
R5079:Gm6614	UTSW	6	141972347	missense	probably benign	0.00
R5312:Gm6614	UTSW	6	141972332	missense	probably benign	0.00
R5691:Gm6614	UTSW	6	141994855	nonsense	probably null
R5874:Gm6614	UTSW	6	141972235	missense	probably benign	0.00
R5945:Gm6614	UTSW	6	141994282	missense	probably damaging	1.00
R6478:Gm6614	UTSW	6	141993642	missense	possibly damaging	0.93
R7305:Gm6614	UTSW	6	141992494	missense	probably damaging	1.00
R7325:Gm6614	UTSW	6	141989225	missense	probably damaging	0.98
R7427:Gm6614	UTSW	6	142003508	critical splice acceptor site	probably null
R7728:Gm6614	UTSW	6	141987710	nonsense	probably null
R7949:Gm6614	UTSW	6	141994265	missense	probably damaging	1.00
R8079:Gm6614	UTSW	6	141987734	missense	probably benign	0.00
R8095:Gm6614	UTSW	6	141987689	missense	probably benign	0.39
R8687:Gm6614	UTSW	6	141994265	missense	probably damaging	0.98
R8788:Gm6614	UTSW	6	141987844	missense	probably benign	0.00
R8869:Gm6614	UTSW	6	141982084	missense	probably damaging	0.96
R9162:Gm6614	UTSW	6	141993727	missense	probably damaging	1.00
R9262:Gm6614	UTSW	6	141980868	missense	probably damaging	0.98
R9280:Gm6614	UTSW	6	141994252	missense	possibly damaging	0.80
R9398:Gm6614	UTSW	6	141994785	missense	possibly damaging	0.95
R9600:Gm6614	UTSW	6	142003508	critical splice acceptor site	probably null
RF021:Gm6614	UTSW	6	142008714	missense	probably damaging	0.98
Z1176:Gm6614	UTSW	6	141990348	missense	probably benign	0.01
Z1177:Gm6614	UTSW	6	141994202	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAAGATGCCAGTGCTCAAAG -3'
(R):5'- AAGGCTGTTGACTAAGAGTTGC -3'

Sequencing Primer
(F):5'- CTCAAAGAGCCACAGCAGAAAGG -3'
(R):5'- GCTGATACTTTACTGCAACAAGC -3'

Posted On

2021-01-18