Mutagenetix > Incidental Mutations

Incidental Mutation 'R0469:Mcf2l'

43133

Institutional Source

Beutler Lab

Gene Symbol

Mcf2l

Ensembl Gene

ENSMUSG00000031442

Gene Name

mcf.2 transforming sequence-like

Synonyms

C130040G20Rik, Dbs

MMRRC Submission

038669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0469 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

12873806-13020905 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12997337 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 233 (D233G)

Ref Sequence

ENSEMBL: ENSMUSP00000106503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095456] [ENSMUST00000098927] [ENSMUST00000110866] [ENSMUST00000110867] [ENSMUST00000110871] [ENSMUST00000110873] [ENSMUST00000110876] [ENSMUST00000110879] [ENSMUST00000145067] [ENSMUST00000173006] [ENSMUST00000173099]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095456
AA Change: D263G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: D263G

Domain	Start	End	E-Value	Type
SEC14	75	221	1.77e-24	SMART
SPEC	354	455	4.41e-15	SMART
coiled coil region	507	529	N/A	INTRINSIC
low complexity region	578	594	N/A	INTRINSIC
RhoGEF	636	811	2.83e-63	SMART
PH	831	948	8.13e-14	SMART
low complexity region	966	978	N/A	INTRINSIC
SH3	1058	1115	3.33e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098927
AA Change: D237G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: D237G

Domain	Start	End	E-Value	Type
SEC14	49	195	1.77e-24	SMART
SPEC	328	429	4.41e-15	SMART
coiled coil region	481	503	N/A	INTRINSIC
low complexity region	552	568	N/A	INTRINSIC
RhoGEF	610	785	2.83e-63	SMART
PH	805	922	8.13e-14	SMART
low complexity region	940	952	N/A	INTRINSIC
low complexity region	1022	1033	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110866
AA Change: D211G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: D211G

Domain	Start	End	E-Value	Type
SEC14	23	169	1.77e-24	SMART
SPEC	302	403	4.41e-15	SMART
coiled coil region	455	477	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
RhoGEF	584	759	2.83e-63	SMART
PH	779	896	8.13e-14	SMART
low complexity region	914	926	N/A	INTRINSIC
SH3	1006	1063	3.33e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110867
AA Change: D211G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: D211G

Domain	Start	End	E-Value	Type
SEC14	23	169	1.77e-24	SMART
SPEC	302	403	4.41e-15	SMART
coiled coil region	455	477	N/A	INTRINSIC
low complexity region	526	542	N/A	INTRINSIC
RhoGEF	584	759	2.83e-63	SMART
PH	779	896	8.13e-14	SMART
low complexity region	914	926	N/A	INTRINSIC
SH3	1006	1063	3.33e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110871
AA Change: D231G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: D231G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SEC14	43	189	1.77e-24	SMART
SPEC	322	423	4.41e-15	SMART
coiled coil region	475	497	N/A	INTRINSIC
low complexity region	546	562	N/A	INTRINSIC
RhoGEF	604	779	2.83e-63	SMART
PH	799	916	8.13e-14	SMART
low complexity region	934	946	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110873
AA Change: D74G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: D74G

Domain	Start	End	E-Value	Type
SPEC	165	266	4.41e-15	SMART
coiled coil region	318	340	N/A	INTRINSIC
low complexity region	389	405	N/A	INTRINSIC
RhoGEF	447	622	2.83e-63	SMART
PH	642	759	8.13e-14	SMART
low complexity region	777	789	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110876
AA Change: D233G

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: D233G

Domain	Start	End	E-Value	Type
SEC14	45	191	1.77e-24	SMART
SPEC	324	425	4.41e-15	SMART
coiled coil region	477	499	N/A	INTRINSIC
low complexity region	548	564	N/A	INTRINSIC
RhoGEF	606	781	2.83e-63	SMART
PH	801	918	8.13e-14	SMART
low complexity region	936	948	N/A	INTRINSIC
SH3	1084	1141	3.33e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110879
AA Change: D233G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: D233G

Domain	Start	End	E-Value	Type
SEC14	45	191	1.77e-24	SMART
SPEC	324	425	4.41e-15	SMART
coiled coil region	477	499	N/A	INTRINSIC
low complexity region	548	564	N/A	INTRINSIC
RhoGEF	606	781	2.83e-63	SMART
PH	801	918	8.13e-14	SMART
low complexity region	936	948	N/A	INTRINSIC
SH3	1028	1085	3.33e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126905

SMART Domains

Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442

Domain	Start	End	E-Value	Type
SPEC	5	88	8.25e-6	SMART
coiled coil region	139	161	N/A	INTRINSIC
low complexity region	211	227	N/A	INTRINSIC
RhoGEF	269	444	2.83e-63	SMART
PH	464	581	8.13e-14	SMART
low complexity region	599	611	N/A	INTRINSIC
SH3	716	773	3.33e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145067
AA Change: D170G

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: D170G

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	16	132	2.4e-12	PFAM
SPEC	261	362	4.41e-15	SMART
coiled coil region	414	436	N/A	INTRINSIC
low complexity region	485	501	N/A	INTRINSIC
RhoGEF	543	718	2.83e-63	SMART
PH	738	855	8.13e-14	SMART
low complexity region	873	885	N/A	INTRINSIC
SH3	1021	1078	3.33e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173006
AA Change: D142G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: D142G

Domain	Start	End	E-Value	Type
Pfam:CRAL_TRIO_2	1	104	1.3e-12	PFAM
SPEC	233	334	4.41e-15	SMART
coiled coil region	386	408	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
RhoGEF	515	690	2.83e-63	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173099
AA Change: D229G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: D229G

Domain	Start	End	E-Value	Type
SEC14	41	187	1.77e-24	SMART
SPEC	320	421	4.41e-15	SMART
coiled coil region	473	495	N/A	INTRINSIC
low complexity region	544	560	N/A	INTRINSIC
RhoGEF	602	777	2.83e-63	SMART
PH	797	914	8.13e-14	SMART
low complexity region	932	944	N/A	INTRINSIC
low complexity region	1014	1025	N/A	INTRINSIC

Meta Mutation Damage Score

0.2167

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,977,616	I67T	probably damaging	Het
Acoxl	G	A	2: 127,880,503		probably null	Het
Adam10	T	A	9: 70,748,248	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232	R5627*	probably null	Het
Alms1	A	T	6: 85,620,369	R1195*	probably null	Het
Arih2	T	A	9: 108,605,092	H490L	possibly damaging	Het
Arpc1b	T	A	5: 145,127,715	W361R	probably damaging	Het
B3gntl1	A	T	11: 121,673,025	V3D	probably benign	Het
Baiap2l1	T	C	5: 144,275,891	Y438C	probably damaging	Het
Bicc1	C	A	10: 71,079,215	R73L	probably benign	Het
Ccdc110	T	A	8: 45,935,157	N50K	probably benign	Het
Cep76	A	T	18: 67,634,780	N227K	probably benign	Het
Col6a4	A	T	9: 106,080,547	V26D	probably damaging	Het
Cpe	T	A	8: 64,611,467	I233F	probably damaging	Het
Cpsf2	T	C	12: 101,988,786	V272A	probably damaging	Het
Defa34	A	G	8: 21,665,972		probably null	Het
Dnah12	A	G	14: 26,798,899	R1892G	probably damaging	Het
Efr3b	G	T	12: 3,982,058	D183E	probably benign	Het
Epyc	A	G	10: 97,649,763	T22A	probably benign	Het
Fam83a	C	A	15: 58,009,926	Q384K	probably benign	Het
Fam83b	G	T	9: 76,492,826	L332I	possibly damaging	Het
Ggn	C	T	7: 29,171,296	P47S	probably damaging	Het
Gli3	T	G	13: 15,724,785	L919R	probably damaging	Het
Gm8251	T	A	1: 44,061,097	K280N	possibly damaging	Het
Golgb1	A	G	16: 36,931,635	I3144V	probably benign	Het
Gpr108	T	C	17: 57,235,358	D549G	possibly damaging	Het
Gpr39	C	T	1: 125,677,500	T55M	probably damaging	Het
Grk4	A	G	5: 34,716,213	T208A	probably damaging	Het
Gucy2e	T	C	11: 69,235,576	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,334,244	Q135*	probably null	Het
Hectd4	T	A	5: 121,281,896	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,305,673	E1319K	possibly damaging	Het
Hnrnph3	T	A	10: 63,018,215	R41S	probably benign	Het
Hnrnph3	T	A	10: 63,019,500	D2V	probably damaging	Het
Hs3st2	T	C	7: 121,500,569	S213P	probably damaging	Het
Ikbkb	A	T	8: 22,671,635	C412*	probably null	Het
Kctd21	T	C	7: 97,347,541	F74L	probably damaging	Het
Krt23	T	A	11: 99,486,782	I133L	probably damaging	Het
Krt74	T	C	15: 101,763,316		noncoding transcript	Het
Lmtk3	T	A	7: 45,794,112	L740M	possibly damaging	Het
Lrrc10	T	A	10: 117,045,790	L123Q	probably damaging	Het
Map1a	A	T	2: 121,305,774	H2357L	probably benign	Het
Mdn1	A	G	4: 32,738,619	N3524S	probably benign	Het
Msto1	A	G	3: 88,911,541	L269P	probably benign	Het
Naca	C	T	10: 128,044,790	A1897V	probably benign	Het
Olfr1138	A	G	2: 87,737,481	V281A	probably damaging	Het
Olfr1238	A	T	2: 89,406,791	M96K	probably damaging	Het
Olfr338	A	T	2: 36,377,462	I229F	probably benign	Het
Olfr870	T	C	9: 20,171,265	Y102C	probably benign	Het
Pdzrn3	A	T	6: 101,151,053	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761	V48L	possibly damaging	Het
Pkn1	C	A	8: 83,672,324	C678F	probably damaging	Het
Pla2g4a	T	A	1: 149,840,647	M688L	possibly damaging	Het
Ppp1r3c	A	T	19: 36,734,217	F51Y	possibly damaging	Het
Psen2	T	C	1: 180,238,914	T153A	probably damaging	Het
Rbmx	C	T	X: 57,391,566		probably null	Het
Rbp3	A	G	14: 33,962,419	K1135R	possibly damaging	Het
Slco2b1	T	A	7: 99,661,536	M603L	probably benign	Het
Sncaip	A	G	18: 52,868,709	T101A	probably benign	Het
Ssh1	A	T	5: 113,946,705	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548		probably null	Het
Stk11	T	C	10: 80,126,086	V47A	probably damaging	Het
Sv2b	T	G	7: 75,136,392	M427L	probably benign	Het
Syne1	A	G	10: 5,367,600	L498P	probably damaging	Het
Syne2	T	C	12: 75,854,149		probably null	Het
Taf6l	G	T	19: 8,778,521	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,847,332	V64A	probably benign	Het
Tm9sf1	A	T	14: 55,641,429	F169I	possibly damaging	Het
Tmpo	A	C	10: 91,163,096	I276M	probably benign	Het
Tnnc1	A	G	14: 31,211,408	D149G	probably damaging	Het
Tpr	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	1: 150,423,667		probably null	Het
Traf3ip3	T	A	1: 193,178,231		probably null	Het
Trim55	G	T	3: 19,671,092	V258L	possibly damaging	Het
Trpm1	G	A	7: 64,223,758	G587D	probably damaging	Het
Ttn	A	G	2: 76,730,412	V29215A	probably damaging	Het
Ube2u	A	G	4: 100,486,673	I90V	probably benign	Het
Upb1	T	C	10: 75,415,083		probably null	Het
Vmn2r57	A	T	7: 41,427,792	S317T	possibly damaging	Het
Wdr73	G	A	7: 80,897,950	Q107*	probably null	Het
Zfp628	A	T	7: 4,919,733	Q318L	probably benign	Het

Other mutations in Mcf2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Mcf2l	APN	8	13000857	missense	probably damaging	0.98
IGL00426:Mcf2l	APN	8	12984910	missense	probably damaging	1.00
IGL01391:Mcf2l	APN	8	13014010	splice site	probably null
IGL01795:Mcf2l	APN	8	13000749	splice site	probably null
IGL02314:Mcf2l	APN	8	13001851	missense	probably damaging	0.99
IGL02716:Mcf2l	APN	8	12997277	missense	probably benign	0.19
IGL02985:Mcf2l	APN	8	12963239	missense	probably damaging	1.00
IGL03073:Mcf2l	APN	8	13000004	missense	probably damaging	1.00
IGL03308:Mcf2l	APN	8	13009512	missense	probably damaging	1.00
IGL03371:Mcf2l	APN	8	13001298	missense	probably damaging	1.00
P0022:Mcf2l	UTSW	8	13018897	nonsense	probably null
R0062:Mcf2l	UTSW	8	13006766	unclassified	probably benign
R0067:Mcf2l	UTSW	8	13013060	missense	probably benign	0.01
R0110:Mcf2l	UTSW	8	12997337	missense	probably damaging	1.00
R0450:Mcf2l	UTSW	8	12997337	missense	probably damaging	1.00
R0510:Mcf2l	UTSW	8	12997337	missense	probably damaging	1.00
R0543:Mcf2l	UTSW	8	12996728	critical splice donor site	probably null
R0591:Mcf2l	UTSW	8	13018751	missense	probably benign	0.11
R0801:Mcf2l	UTSW	8	13014020	intron	probably benign
R0962:Mcf2l	UTSW	8	13001964	missense	probably benign	0.14
R1084:Mcf2l	UTSW	8	13002645	missense	possibly damaging	0.94
R1794:Mcf2l	UTSW	8	12915982	missense	probably benign	0.33
R2111:Mcf2l	UTSW	8	13001867	missense	probably damaging	0.99
R2112:Mcf2l	UTSW	8	13001867	missense	probably damaging	0.99
R3785:Mcf2l	UTSW	8	12880099	missense	probably damaging	0.97
R4777:Mcf2l	UTSW	8	13018051	splice site	probably null
R4858:Mcf2l	UTSW	8	13013972	missense	probably damaging	1.00
R4980:Mcf2l	UTSW	8	12984883	missense	probably damaging	1.00
R5021:Mcf2l	UTSW	8	13011808	missense	probably damaging	1.00
R5067:Mcf2l	UTSW	8	12915959	intron	probably benign
R5158:Mcf2l	UTSW	8	13009715	missense	probably damaging	1.00
R5439:Mcf2l	UTSW	8	12926646	missense	possibly damaging	0.85
R5569:Mcf2l	UTSW	8	13005481	missense	probably damaging	1.00
R5655:Mcf2l	UTSW	8	13010444	missense	probably damaging	0.98
R5668:Mcf2l	UTSW	8	13013812	nonsense	probably null
R5753:Mcf2l	UTSW	8	12999993	missense	probably damaging	1.00
R5808:Mcf2l	UTSW	8	12993937	start codon destroyed	probably null	0.92
R5946:Mcf2l	UTSW	8	13013922	missense	probably damaging	1.00
R6168:Mcf2l	UTSW	8	13001823	missense	probably benign	0.05
R6174:Mcf2l	UTSW	8	13013849	nonsense	probably null
R6212:Mcf2l	UTSW	8	13017431	missense	probably damaging	1.00
R6270:Mcf2l	UTSW	8	13018701	missense	probably damaging	0.99
R6383:Mcf2l	UTSW	8	12879912	start gained	probably benign
R6850:Mcf2l	UTSW	8	13009476	missense	possibly damaging	0.82
R6908:Mcf2l	UTSW	8	13018919	missense	probably benign
R7101:Mcf2l	UTSW	8	13013579	missense	possibly damaging	0.80
R7163:Mcf2l	UTSW	8	12915439	missense	probably benign	0.00
R7203:Mcf2l	UTSW	8	13010456	missense	probably benign	0.09
R7414:Mcf2l	UTSW	8	13019022	makesense	probably null
R7553:Mcf2l	UTSW	8	12997268	missense	probably benign
R7556:Mcf2l	UTSW	8	12973071	missense	probably damaging	0.99
R7688:Mcf2l	UTSW	8	12948130	missense	possibly damaging	0.74
R7776:Mcf2l	UTSW	8	12880127	missense	probably benign
R7947:Mcf2l	UTSW	8	13003529	splice site	probably null
R8077:Mcf2l	UTSW	8	12998494	critical splice donor site	probably null
R8083:Mcf2l	UTSW	8	13007875	splice site	probably null
R8133:Mcf2l	UTSW	8	13011487	missense	probably damaging	1.00
R8189:Mcf2l	UTSW	8	12963164	missense	probably damaging	0.98
R8453:Mcf2l	UTSW	8	12984956	splice site	probably null
R8520:Mcf2l	UTSW	8	12880089	missense	probably benign
X0052:Mcf2l	UTSW	8	13018713	missense	possibly damaging	0.89
Z1177:Mcf2l	UTSW	8	13009654	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCAAAGCCTGCCTTGTACATTTC -3'
(R):5'- AGTGTCCTATCAAGAGCCCCAGAG -3'

Sequencing Primer
(F):5'- CCTTTCCAAGAACAGTCATGGTG -3'
(R):5'- CAGAGACACATTTACTTCTGGC -3'

Posted On

2013-05-23