Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Gm4787'

691842

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81378715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 223 (H223L)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

B2RUD9

Predicted Effect

probably benign
Transcript: ENSMUST00000062182
AA Change: H223L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: H223L

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	1.5e-19	PFAM
Pfam:Reprolysin	213	406	4.6e-18	PFAM
DISIN	425	500	2e-33	SMART
ACR	501	644	2.83e-53	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,490,938	C458*	probably null	Het
Adgra2	G	A	8: 27,113,408	G407D	probably damaging	Het
Aox4	G	A	1: 58,257,282	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,360,714	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,727,920	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,347,014	T252I	probably damaging	Het
Capn7	A	G	14: 31,369,775	T710A	probably benign	Het
Carmil1	A	G	13: 24,111,853	C393R	probably benign	Het
Chd5	A	C	4: 152,376,987	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,181,268	N449S	probably benign	Het
Cpz	G	A	5: 35,517,710	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,739,181	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,546,789	F345I	probably benign	Het
Dennd2d	T	C	3: 106,490,368	Y161H		Het
E330021D16Rik	T	A	6: 136,401,013	D273V	probably benign	Het
Egfl8	C	T	17: 34,614,236	D179N	probably benign	Het
Eif2a	A	G	3: 58,545,040	N174S		Het
Farp1	C	T	14: 121,271,692	H643Y	possibly damaging	Het
Fat1	G	T	8: 44,951,813	V534L	probably benign	Het
Fbxo48	A	G	11: 16,953,556	T61A	probably benign	Het
Fnbp4	A	G	2: 90,777,843	T970A	probably benign	Het
Foxd1	T	A	13: 98,355,255	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,773,869	H9N	probably benign	Het
Fyb	A	G	15: 6,643,751	D622G	possibly damaging	Het
Grin3a	A	G	4: 49,771,179	V531A	probably damaging	Het
Gzmb	T	C	14: 56,261,165	D42G	probably benign	Het
Herc2	T	A	7: 56,135,055	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,998,007	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,760,917		probably null	Het
Igtp	A	G	11: 58,206,900	E299G		Het
Klhl28	T	C	12: 64,943,526	D547G	possibly damaging	Het
Leng8	G	C	7: 4,143,898	R473P	probably damaging	Het
Lin37	T	A	7: 30,557,630	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,595,110	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,205,772	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,328,761	S390P	unknown	Het
Map3k2	G	A	18: 32,220,572	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,303,743	V665E	probably damaging	Het
Myh3	A	T	11: 67,098,625	I1524F	probably benign	Het
Myo1g	A	G	11: 6,516,153	S339P	possibly damaging	Het
Nf1	A	G	11: 79,559,506	K506R	probably damaging	Het
Nudt21	A	G	8: 94,019,693	I225T	probably benign	Het
Olfr1009	T	A	2: 85,722,183	Y259*	probably null	Het
Olfr1183	A	G	2: 88,461,598	K105R	probably benign	Het
Olfr147	A	G	9: 38,403,222	Y116C	probably damaging	Het
Olfr504	A	T	7: 108,565,573	L74Q	probably benign	Het
Olfr896-ps1	A	T	9: 38,292,673	I243F	probably damaging	Het
Pax2	C	T	19: 44,818,529	T299I	probably benign	Het
Pde4dip	C	T	3: 97,841,728	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,304,413	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,482,570	Y343F	probably damaging	Het
Phf10	A	G	17: 14,954,120	I232T	probably damaging	Het
Plcb3	C	T	19: 6,958,920	G745D	probably benign	Het
Pramef6	G	A	4: 143,897,811	L39F	probably damaging	Het
Recql	C	A	6: 142,376,789	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,405,042	D288N	unknown	Het
Samd4	T	C	14: 47,016,609	Y177H	probably benign	Het
Sim1	T	A	10: 50,909,429	M198K	possibly damaging	Het
Six4	T	C	12: 73,109,190	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,572,196	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,945,392	K264N	probably benign	Het
Slc8b1	A	T	5: 120,532,874	I476F	probably benign	Het
Smcp	T	C	3: 92,584,531	D3G	unknown	Het
Tagap	A	T	17: 7,933,503	M507L	probably benign	Het
Thap11	A	G	8: 105,856,148	E263G	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Top3a	T	G	11: 60,763,427		probably null	Het
Vmn1r31	A	G	6: 58,472,088	V264A	unknown	Het
Vti1a	A	C	19: 55,328,433	M81L	probably benign	Het
Wscd1	T	C	11: 71,783,419		probably null	Het
Zfp595	T	C	13: 67,316,612	E532G	probably damaging	Het
Zranb1	T	A	7: 132,982,438	V539D	probably damaging	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81377174	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81377444	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81378528	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81378728	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81378769	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81378052	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81379174	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81377567	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81377175	missense	probably benign
R0070:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81377747	nonsense	probably null
R0220:Gm4787	UTSW	12	81378648	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81378934	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81377176	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81378529	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81378770	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81378920	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81377833	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81378562	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81378758	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81379137	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81378358	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81379213	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81378056	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81378367	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81378838	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81379316	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81377629	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81378677	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81377465	nonsense	probably null
R5364:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81378328	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81377981	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81379200	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81377905	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81378151	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81379135	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81377506	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81377269	missense	probably benign	0.00
R9457:Gm4787	UTSW	12	81379246	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81379300	nonsense	probably null
R9608:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGCTCCATATGCCAAAAG -3'
(R):5'- CTTGTGGTGGACGAAAGGTC -3'

Sequencing Primer
(F):5'- TATGCCAAAAGTAACCAGCTTTC -3'
(R):5'- GGCAAAGGTAGGTAACCT -3'

Posted On

2021-12-30