Mutagenetix > Incidental Mutation

Incidental Mutation 'R1474:Dnm1'

163860

Institutional Source

Beutler Lab

Gene Symbol

Dnm1

Ensembl Gene

ENSMUSG00000026825

Gene Name

dynamin 1

Synonyms

dynamin 1, Ftfl

MMRRC Submission

039527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32198483-32243350 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32210596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 502 (I502V)

Ref Sequence

ENSEMBL: ENSMUSP00000144145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000091089] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000129156] [ENSMUST00000139624] [ENSMUST00000202578] [ENSMUST00000201433] [ENSMUST00000201494]

AlphaFold

P39053

Predicted Effect

probably benign
Transcript: ENSMUST00000078352
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091089
AA Change: I527V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
AA Change: I527V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	516	623	2.7e-10	SMART
GED	650	741	9.51e-32	SMART
low complexity region	743	757	N/A	INTRINSIC
low complexity region	779	812	N/A	INTRINSIC
low complexity region	815	826	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113350
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113352
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113365
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129156

SMART Domains

Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
PH	1	96	2.75e-2	SMART
GED	123	214	9.51e-32	SMART
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139624
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202578
AA Change: I531V

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201433
AA Change: I531V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
AA Change: I531V

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201494
AA Change: I502V

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825
AA Change: I502V

Domain	Start	End	E-Value	Type
DYNc	6	245	6.9e-180	SMART
Pfam:Dynamin_M	413	473	2.1e-14	PFAM
PH	491	598	1.2e-12	SMART
GED	625	716	6.1e-34	SMART
low complexity region	718	732	N/A	INTRINSIC
low complexity region	754	787	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	822	832	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175024

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

95% (104/110)

MGI Phenotype

FUNCTION: This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein is a GTPase which is required for membrane recycling, including vesicle endocytosis in neurons. It may also be involved in cellular fission via association with microtubules and actin filaments. Mutations in this gene have been shown to cause seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice display reduced postnatal viability. Null mutation of this gene results in abnormal synaptic vesicle morphology, and recycling during neuronal activity. Other alleles are associated with seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,960,635 (GRCm39)	A628S	probably damaging	Het
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Ada	C	T	2: 163,574,814 (GRCm39)	A108T	possibly damaging	Het
Adam6a	T	A	12: 113,508,069 (GRCm39)	D147E	possibly damaging	Het
Ampd1	A	T	3: 103,006,154 (GRCm39)	T655S	probably damaging	Het
Ankk1	A	G	9: 49,327,139 (GRCm39)	F680S	probably damaging	Het
Asap1	G	A	15: 63,991,869 (GRCm39)	T783I	probably benign	Het
Astn1	T	A	1: 158,329,923 (GRCm39)	N259K	probably damaging	Het
Birc6	T	C	17: 74,886,673 (GRCm39)	V667A	probably damaging	Het
Brat1	G	A	5: 140,698,382 (GRCm39)	V185I	probably benign	Het
Btnl6	T	C	17: 34,732,620 (GRCm39)	Y318C	probably damaging	Het
Caskin2	G	A	11: 115,694,522 (GRCm39)	P360S	probably benign	Het
Ccdc121rt3	T	C	5: 112,503,642 (GRCm39)	T21A	probably benign	Het
Cd68	T	A	11: 69,555,754 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,952,355 (GRCm39)		probably benign	Het
Cdk6	G	A	5: 3,523,217 (GRCm39)	M212I	probably benign	Het
Ceacam5	T	A	7: 17,481,159 (GRCm39)	F302Y	probably damaging	Het
Celsr2	T	C	3: 108,301,055 (GRCm39)	E2746G	possibly damaging	Het
Clec4a4	G	A	6: 122,989,703 (GRCm39)	V115I	probably benign	Het
Clip3	C	A	7: 29,998,307 (GRCm39)	A251E	possibly damaging	Het
Cmah	T	C	13: 24,623,180 (GRCm39)	L350P	probably damaging	Het
Cntnap5a	C	T	1: 116,370,103 (GRCm39)	R907*	probably null	Het
Cntnap5b	T	C	1: 99,999,814 (GRCm39)	Y191H	probably benign	Het
Col4a4	A	T	1: 82,458,207 (GRCm39)	C1122*	probably null	Het
Coq5	A	G	5: 115,433,842 (GRCm39)		probably benign	Het
Cpxcr1	A	G	X: 115,387,136 (GRCm39)	K16E	possibly damaging	Het
Dclk3	T	C	9: 111,298,304 (GRCm39)	I616T	probably benign	Het
Dhrs3	A	T	4: 144,646,057 (GRCm39)	T122S	probably damaging	Het
Dscaml1	G	T	9: 45,596,519 (GRCm39)	G788W	probably damaging	Het
Dusp10	C	T	1: 183,769,645 (GRCm39)		probably null	Het
Ehbp1l1	C	A	19: 5,769,112 (GRCm39)	L730F	possibly damaging	Het
Eif2ak1	C	T	5: 143,808,785 (GRCm39)	H75Y	probably damaging	Het
Evi2a	T	C	11: 79,418,398 (GRCm39)	T71A	probably benign	Het
Fam184a	A	T	10: 53,511,461 (GRCm39)	S1073T	probably damaging	Het
Fam227a	T	C	15: 79,499,582 (GRCm39)	Y591C	probably damaging	Het
Fam83a	C	T	15: 57,873,272 (GRCm39)	T367M	probably benign	Het
Fam83g	A	G	11: 61,593,819 (GRCm39)	D451G	probably damaging	Het
Fbn1	A	G	2: 125,203,185 (GRCm39)	F1213L	possibly damaging	Het
Fcgbp	G	A	7: 27,791,273 (GRCm39)	V845I	probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxn1	T	A	11: 78,251,933 (GRCm39)	M433L	probably benign	Het
Gm6632	T	G	5: 59,211,679 (GRCm39)		noncoding transcript	Het
Gnl3	A	T	14: 30,738,418 (GRCm39)		probably benign	Het
Hhipl1	C	T	12: 108,277,996 (GRCm39)	T108I	probably damaging	Het
Hs2st1	A	T	3: 144,141,256 (GRCm39)	F271I	possibly damaging	Het
Ido1	T	C	8: 25,074,462 (GRCm39)	S303G	probably damaging	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Kcnc2	A	G	10: 112,292,305 (GRCm39)	K49E	probably damaging	Het
Kif3b	T	A	2: 153,162,235 (GRCm39)	V482E	probably damaging	Het
Ldlrad2	G	A	4: 137,299,525 (GRCm39)	P100S	probably benign	Het
Lrba	G	T	3: 86,687,573 (GRCm39)		probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mob3a	A	T	10: 80,522,988 (GRCm39)	M215K	probably benign	Het
Mterf1b	T	G	5: 4,247,163 (GRCm39)	L268R	probably damaging	Het
Mvk	T	C	5: 114,598,157 (GRCm39)	F365L	probably damaging	Het
Myo16	T	A	8: 10,552,796 (GRCm39)	F945I	probably damaging	Het
Myo1f	G	T	17: 33,813,001 (GRCm39)	K602N	possibly damaging	Het
Nr2c2ap	A	T	8: 70,585,765 (GRCm39)	M108L	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Ogfrl1	A	G	1: 23,414,890 (GRCm39)	F206L	probably damaging	Het
Ola1	A	T	2: 72,987,188 (GRCm39)	I148N	probably damaging	Het
Or14c46	G	T	7: 85,918,270 (GRCm39)	H242Q	probably damaging	Het
Or4d10b	T	A	19: 12,036,844 (GRCm39)	T91S	probably benign	Het
Or51f1d	A	G	7: 102,701,288 (GRCm39)	Y261C	probably damaging	Het
Or6c2	A	T	10: 129,362,824 (GRCm39)	M243L	probably benign	Het
Or9m2	A	G	2: 87,821,334 (GRCm39)	N293S	probably damaging	Het
Otof	A	G	5: 30,536,876 (GRCm39)		probably null	Het
Pah	G	T	10: 87,414,175 (GRCm39)	K341N	probably damaging	Het
Pfdn5	T	A	15: 102,236,946 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,216,202 (GRCm39)	C960R	probably damaging	Het
Pitx2	T	C	3: 129,012,488 (GRCm39)	V306A	probably damaging	Het
Pkd1l2	C	A	8: 117,792,236 (GRCm39)		probably benign	Het
Plekho1	T	C	3: 95,896,878 (GRCm39)	E197G	probably damaging	Het
Polr2i	A	G	7: 29,932,227 (GRCm39)	N34S	probably damaging	Het
Psph	A	T	5: 129,848,614 (GRCm39)	D22E	probably damaging	Het
Ptprs	C	A	17: 56,731,128 (GRCm39)	A687S	probably damaging	Het
Ralgapa1	T	C	12: 55,788,265 (GRCm39)	K606R	probably benign	Het
Rigi	A	G	4: 40,208,868 (GRCm39)	V703A	possibly damaging	Het
Rims1	A	G	1: 22,577,362 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,576 (GRCm39)	P2002L	probably damaging	Het
Ryr3	A	T	2: 112,740,307 (GRCm39)	C555S	probably damaging	Het
Sftpd	C	A	14: 40,894,384 (GRCm39)	G345V	probably damaging	Het
Slc41a1	T	A	1: 131,774,319 (GRCm39)	M462K	probably damaging	Het
Slc44a2	A	G	9: 21,264,990 (GRCm39)	E676G	probably damaging	Het
Sox6	T	A	7: 115,300,926 (GRCm39)		probably benign	Het
Spdye4b	G	A	5: 143,181,472 (GRCm39)	R109Q	probably damaging	Het
Spef1l	C	A	7: 139,556,555 (GRCm39)	R144L	probably benign	Het
Spink8	A	T	9: 109,649,706 (GRCm39)	I63L	probably damaging	Het
St3gal3	A	G	4: 117,871,983 (GRCm39)	L73P	probably damaging	Het
Stab1	A	G	14: 30,871,818 (GRCm39)	L1247P	probably benign	Het
Tat	A	G	8: 110,718,195 (GRCm39)	R27G	probably benign	Het
Tcerg1l	C	T	7: 137,881,804 (GRCm39)	R295H	probably damaging	Het
Tfrc	T	C	16: 32,445,467 (GRCm39)	V596A	probably damaging	Het
Tgfb3	C	T	12: 86,116,120 (GRCm39)		probably null	Het
Tmed5	A	T	5: 108,280,248 (GRCm39)	S15T	probably benign	Het
Tph1	A	T	7: 46,303,286 (GRCm39)	S231T	probably benign	Het
Trim30d	G	A	7: 104,121,701 (GRCm39)	S198L	probably damaging	Het
Trpm6	T	C	19: 18,773,859 (GRCm39)	M412T	probably benign	Het
Ttn	G	T	2: 76,612,589 (GRCm39)	D15417E	probably benign	Het
U2surp	A	G	9: 95,375,251 (GRCm39)	I157T	possibly damaging	Het
Ubr4	A	G	4: 139,156,890 (GRCm39)	D2305G	probably damaging	Het
Uvssa	A	G	5: 33,546,165 (GRCm39)	K179E	probably benign	Het
Vps35l	T	C	7: 118,359,436 (GRCm39)	F230S	probably damaging	Het
Xirp2	A	G	2: 67,355,411 (GRCm39)	K3391E	probably benign	Het
Xpo7	T	A	14: 70,936,473 (GRCm39)	H170L	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,404 (GRCm39)	W393R	probably benign	Het

Other mutations in Dnm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Dnm1	APN	2	32,213,462 (GRCm39)	missense	probably benign	0.18
IGL02338:Dnm1	APN	2	32,202,783 (GRCm39)	missense	probably damaging	1.00
IGL02555:Dnm1	APN	2	32,218,050 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dnm1	APN	2	32,205,931 (GRCm39)	splice site	probably null
IGL03006:Dnm1	APN	2	32,243,133 (GRCm39)	missense	possibly damaging	0.84
IGL03013:Dnm1	APN	2	32,226,296 (GRCm39)	missense	probably benign	0.13
IGL03347:Dnm1	APN	2	32,243,199 (GRCm39)	missense	probably benign	0.32
R0180:Dnm1	UTSW	2	32,218,005 (GRCm39)	missense	probably damaging	0.99
R0242:Dnm1	UTSW	2	32,207,001 (GRCm39)	missense	possibly damaging	0.55
R0242:Dnm1	UTSW	2	32,207,001 (GRCm39)	missense	possibly damaging	0.55
R0387:Dnm1	UTSW	2	32,210,593 (GRCm39)	missense	possibly damaging	0.90
R0608:Dnm1	UTSW	2	32,225,836 (GRCm39)	missense	possibly damaging	0.89
R1230:Dnm1	UTSW	2	32,205,921 (GRCm39)	missense	probably damaging	1.00
R1703:Dnm1	UTSW	2	32,213,463 (GRCm39)	missense	probably benign	0.01
R1881:Dnm1	UTSW	2	32,213,742 (GRCm39)	missense	probably damaging	1.00
R2155:Dnm1	UTSW	2	32,204,949 (GRCm39)	missense	probably damaging	0.96
R4405:Dnm1	UTSW	2	32,225,984 (GRCm39)	missense	probably damaging	1.00
R4592:Dnm1	UTSW	2	32,226,023 (GRCm39)	missense	probably damaging	0.99
R5357:Dnm1	UTSW	2	32,226,253 (GRCm39)	missense	probably null	0.17
R5926:Dnm1	UTSW	2	32,205,816 (GRCm39)	missense	probably benign	0.00
R6135:Dnm1	UTSW	2	32,223,075 (GRCm39)	splice site	probably null
R6463:Dnm1	UTSW	2	32,199,603 (GRCm39)	utr 3 prime	probably benign
R6563:Dnm1	UTSW	2	32,202,738 (GRCm39)	missense	probably damaging	1.00
R6626:Dnm1	UTSW	2	32,230,892 (GRCm39)	missense	probably damaging	1.00
R6707:Dnm1	UTSW	2	32,226,253 (GRCm39)	missense	probably null	0.17
R6790:Dnm1	UTSW	2	32,223,079 (GRCm39)	missense	probably damaging	1.00
R6803:Dnm1	UTSW	2	32,202,766 (GRCm39)	missense	probably damaging	1.00
R7156:Dnm1	UTSW	2	32,230,479 (GRCm39)	missense	probably damaging	1.00
R7313:Dnm1	UTSW	2	32,226,021 (GRCm39)	missense	probably damaging	1.00
R7809:Dnm1	UTSW	2	32,243,091 (GRCm39)	missense	probably damaging	1.00
R7919:Dnm1	UTSW	2	32,229,990 (GRCm39)	missense	probably damaging	1.00
R8481:Dnm1	UTSW	2	32,230,490 (GRCm39)	missense	probably benign	0.01
R8486:Dnm1	UTSW	2	32,224,739 (GRCm39)	missense	probably benign	0.14
R8733:Dnm1	UTSW	2	32,206,987 (GRCm39)	missense	probably benign	0.06
R8960:Dnm1	UTSW	2	32,202,741 (GRCm39)	missense	probably damaging	1.00
R9476:Dnm1	UTSW	2	32,213,739 (GRCm39)	missense	probably benign	0.03
R9510:Dnm1	UTSW	2	32,213,739 (GRCm39)	missense	probably benign	0.03
R9535:Dnm1	UTSW	2	32,202,344 (GRCm39)	missense	probably benign	0.00
R9566:Dnm1	UTSW	2	32,228,011 (GRCm39)	critical splice donor site	probably null
R9648:Dnm1	UTSW	2	32,230,455 (GRCm39)	missense	probably damaging	1.00
R9785:Dnm1	UTSW	2	32,223,089 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TTCCAGCCTGGATGAGAGGATGAC -3'
(R):5'- TGGGACCCTCAAACGATGCTTG -3'

Sequencing Primer
(F):5'- GAGGATGACTCTCTGACTGTATATC -3'
(R):5'- tttcctgtcttccactctcttc -3'

Posted On

2014-03-28