Mutagenetix > Incidental Mutation

Incidental Mutation 'R5002:Gm10644'

389996

Institutional Source

Beutler Lab

Gene Symbol

Gm10644

Ensembl Gene

ENSMUSG00000074219

Gene Name

predicted gene 10644

Synonyms

MMRRC Submission

042596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84658956-84681962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84660216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 43 (D43G)

Ref Sequence

ENSEMBL: ENSMUSP00000096195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045393] [ENSMUST00000098595] [ENSMUST00000124355] [ENSMUST00000131717] [ENSMUST00000132500] [ENSMUST00000141158] [ENSMUST00000152978]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045393
AA Change: S775P

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048422
Gene: ENSMUSG00000013033
AA Change: S775P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	6.6e-23	PFAM
OLF	142	398	8.5e-138	SMART
low complexity region	405	441	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
HormR	476	541	1.4e-23	SMART
low complexity region	579	591	N/A	INTRINSIC
low complexity region	747	758	N/A	INTRINSIC
GPS	797	849	3.5e-27	SMART
Pfam:7tm_2	856	1092	5.3e-66	PFAM
Pfam:Latrophilin	1112	1470	1.7e-177	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098595
AA Change: D43G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096195
Gene: ENSMUSG00000074219
AA Change: D43G

Domain	Start	End	E-Value	Type
low complexity region	60	72	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124355

SMART Domains

Protein: ENSMUSP00000116064
Gene: ENSMUSG00000013033

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131018

SMART Domains

Protein: ENSMUSP00000117720
Gene: ENSMUSG00000013033

Domain	Start	End	E-Value	Type
Pfam:Latrophilin	1	213	9.2e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131717
AA Change: S599P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118579
Gene: ENSMUSG00000013033
AA Change: S599P

Domain	Start	End	E-Value	Type
OLF	1	222	4.51e-103	SMART
low complexity region	229	265	N/A	INTRINSIC
low complexity region	279	294	N/A	INTRINSIC
HormR	300	365	2.26e-21	SMART
low complexity region	403	415	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
GPS	621	673	5.64e-25	SMART
Pfam:7tm_2	680	916	7.9e-68	PFAM
Pfam:Latrophilin	936	1295	2.7e-181	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132500
AA Change: S770P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119100
Gene: ENSMUSG00000013033
AA Change: S770P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	1.6e-25	PFAM
OLF	137	393	1.39e-135	SMART
low complexity region	400	436	N/A	INTRINSIC
low complexity region	450	465	N/A	INTRINSIC
HormR	471	536	2.26e-21	SMART
low complexity region	574	586	N/A	INTRINSIC
low complexity region	742	753	N/A	INTRINSIC
GPS	792	844	5.64e-25	SMART
Pfam:7tm_2	851	1087	3.4e-68	PFAM
Pfam:Latrophilin	1146	1511	6.4e-193	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139575

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141158
AA Change: S770P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118452
Gene: ENSMUSG00000013033
AA Change: S770P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	3.4e-25	PFAM
OLF	137	393	1.39e-135	SMART
low complexity region	400	436	N/A	INTRINSIC
low complexity region	450	465	N/A	INTRINSIC
HormR	471	536	2.26e-21	SMART
low complexity region	574	586	N/A	INTRINSIC
low complexity region	742	753	N/A	INTRINSIC
GPS	792	844	5.64e-25	SMART
Pfam:7tm_2	851	1087	4.5e-68	PFAM
Pfam:Latrophilin	1107	1466	1.1e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152978
AA Change: S775P

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115295
Gene: ENSMUSG00000013033
AA Change: S775P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Gal_Lectin	48	128	2.1e-25	PFAM
OLF	142	398	1.39e-135	SMART
low complexity region	405	441	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
HormR	476	541	2.26e-21	SMART
Pfam:GAIN	544	773	4.1e-59	PFAM
GPS	797	849	5.64e-25	SMART
Pfam:7tm_2	856	1092	2.3e-69	PFAM
Pfam:Latrophilin	1112	1516	7.3e-136	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150674

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,852,623 (GRCm39)	P736S	probably damaging	Het
Apbb2	A	G	5: 66,470,668 (GRCm39)	I523T	possibly damaging	Het
Casq1	T	A	1: 172,040,945 (GRCm39)	D281V	possibly damaging	Het
Catsperb	T	C	12: 101,486,813 (GRCm39)	F447L	probably benign	Het
Cenpe	A	T	3: 134,952,842 (GRCm39)	M1511L	probably benign	Het
Cep128	T	C	12: 91,222,497 (GRCm39)		probably null	Het
Col6a6	T	C	9: 105,663,292 (GRCm39)	T82A	probably benign	Het
Dna2	A	G	10: 62,786,621 (GRCm39)	D123G	probably damaging	Het
Ergic2	A	G	6: 148,085,656 (GRCm39)	I281T	probably benign	Het
Fcgbp	T	A	7: 27,785,528 (GRCm39)		probably null	Het
Filip1l	T	C	16: 57,391,466 (GRCm39)	Y447H	probably benign	Het
Flnb	T	A	14: 7,945,882 (GRCm38)	M2429K	probably damaging	Het
Fn1	T	A	1: 71,668,887 (GRCm39)	Q686L	possibly damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gpx6	A	G	13: 21,497,858 (GRCm39)	Y43C	probably damaging	Het
Hhat	A	T	1: 192,225,498 (GRCm39)	F494I	probably benign	Het
Itga9	C	A	9: 118,492,966 (GRCm39)	S287*	probably null	Het
Lrrk1	C	A	7: 65,982,111 (GRCm39)	G177W	probably damaging	Het
Ltbp4	GT	G	7: 27,027,110 (GRCm39)		probably null	Het
Ms4a14	T	C	19: 11,281,653 (GRCm39)	I302V	probably benign	Het
Nepn	A	C	10: 52,267,850 (GRCm39)	M39L	probably benign	Het
Nfil3	C	A	13: 53,122,712 (GRCm39)	R64L	probably damaging	Het
Ociad1	T	C	5: 73,467,659 (GRCm39)	V199A	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Or8k3b	C	A	2: 86,520,429 (GRCm39)	V297L	possibly damaging	Het
Polk	A	G	13: 96,625,752 (GRCm39)	Y431H	probably damaging	Het
Prss33	C	T	17: 24,054,332 (GRCm39)		probably benign	Het
Semp2l2b	G	C	10: 21,943,716 (GRCm39)	P88R	probably damaging	Het
Slc12a7	A	G	13: 73,911,896 (GRCm39)	N4S	possibly damaging	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Smarce1	T	C	11: 99,115,889 (GRCm39)	N44S	probably damaging	Het
Spast	C	T	17: 74,676,221 (GRCm39)	Q344*	probably null	Het
Stk11ip	C	A	1: 75,509,187 (GRCm39)		probably benign	Het
Tas2r131	T	C	6: 132,934,114 (GRCm39)	I232V	probably benign	Het
Tesk1	T	C	4: 43,444,573 (GRCm39)	Y126H	probably damaging	Het
Tmpo	A	G	10: 90,999,976 (GRCm39)	V164A	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vwc2l	T	G	1: 70,768,205 (GRCm39)	C43G	probably damaging	Het
Wnk1	G	A	6: 119,914,924 (GRCm39)	T1626I	probably benign	Het
Zpld2	T	A	4: 133,924,231 (GRCm39)	N438I	probably benign	Het

Other mutations in Gm10644

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0332:Gm10644	UTSW	8	84,660,210 (GRCm39)	missense	possibly damaging	0.92
R1914:Gm10644	UTSW	8	84,660,479 (GRCm39)	intron	probably benign
R1915:Gm10644	UTSW	8	84,660,479 (GRCm39)	intron	probably benign
R2184:Gm10644	UTSW	8	84,660,256 (GRCm39)	missense	possibly damaging	0.66
R5848:Gm10644	UTSW	8	84,660,668 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCTTCCTTAGGTGTGGTGAAAG -3'
(R):5'- ACCAGCTACAGGGAACAGTG -3'

Sequencing Primer
(F):5'- GGTGAAAGTTGTCTTCATTCTCTAC -3'
(R):5'- TGACAAGCTTGAAGGAAATGTTTG -3'

Posted On

2016-06-06