Mutagenetix > Incidental Mutation

Incidental Mutation 'R9085:Dmtn'

690559

Institutional Source

Beutler Lab

Gene Symbol

Dmtn

Ensembl Gene

ENSMUSG00000022099

Gene Name

dematin actin binding protein

Synonyms

dematin, Epb4.9

MMRRC Submission

068904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R9085 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

70839624-70873488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70853534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 92 (S92P)

Ref Sequence

ENSEMBL: ENSMUSP00000022694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022694] [ENSMUST00000022695] [ENSMUST00000110984] [ENSMUST00000226543] [ENSMUST00000227331] [ENSMUST00000228001] [ENSMUST00000228009] [ENSMUST00000228295] [ENSMUST00000228824]

AlphaFold

Q9WV69

Predicted Effect

probably damaging
Transcript: ENSMUST00000022694
AA Change: S92P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: S92P

Domain	Start	End	E-Value	Type
Pfam:AbLIM_anchor	8	93	8e-30	PFAM
Pfam:AbLIM_anchor	79	347	1.9e-58	PFAM
VHP	348	383	1.88e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022695
AA Change: S67P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: S67P

Domain	Start	End	E-Value	Type
low complexity region	60	72	N/A	INTRINSIC
low complexity region	88	99	N/A	INTRINSIC
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	188	220	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
VHP	345	380	1.88e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110984
AA Change: S92P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: S92P

Domain	Start	End	E-Value	Type
low complexity region	11	29	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
low complexity region	113	124	N/A	INTRINSIC
low complexity region	174	185	N/A	INTRINSIC
coiled coil region	213	245	N/A	INTRINSIC
low complexity region	277	292	N/A	INTRINSIC
VHP	348	383	1.88e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226543

Predicted Effect

unknown
Transcript: ENSMUST00000227331
AA Change: S45P

Predicted Effect

probably damaging
Transcript: ENSMUST00000228001
AA Change: S67P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228009
AA Change: S92P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228295
AA Change: S67P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228824
AA Change: S67P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Cacna1g	A	T	11: 94,334,046 (GRCm39)	V865E	probably benign	Het
Cbx2	C	T	11: 118,919,914 (GRCm39)	T493M	possibly damaging	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dlec1	G	T	9: 118,953,252 (GRCm39)	C572F	probably damaging	Het
Dnah10	T	C	5: 124,839,237 (GRCm39)	L1225P		Het
Dnah2	G	T	11: 69,320,224 (GRCm39)	H3954Q	possibly damaging	Het
Dntt	C	T	19: 41,044,220 (GRCm39)	R462C	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Foxn3	C	T	12: 99,355,095 (GRCm39)	S23N	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Gdap1l1	T	C	2: 163,280,508 (GRCm39)	W15R	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Gucy2g	A	T	19: 55,221,597 (GRCm39)	Y301*	probably null	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Lpin1	T	C	12: 16,623,715 (GRCm39)	Y223C		Het
Lrrc37	A	G	11: 103,507,565 (GRCm39)	Y1468H	unknown	Het
Mast3	A	T	8: 71,249,361 (GRCm39)	W53R	unknown	Het
Mettl2	T	C	11: 105,021,274 (GRCm39)	V180A	possibly damaging	Het
Mospd3	C	T	5: 137,598,870 (GRCm39)		probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Nelfb	C	T	2: 25,094,292 (GRCm39)	C357Y	probably damaging	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nin	T	A	12: 70,076,786 (GRCm39)	R1797*	probably null	Het
Nxpe2	A	T	9: 48,250,872 (GRCm39)	I25K	probably benign	Het
Or4a39	A	G	2: 89,236,641 (GRCm39)	S261P	probably damaging	Het
Or5ak24	T	A	2: 85,260,619 (GRCm39)	T185S	probably benign	Het
Osbpl1a	T	C	18: 13,062,093 (GRCm39)	H60R	probably damaging	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pde6c	G	A	19: 38,166,569 (GRCm39)	V704I	probably benign	Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Pla2r1	A	T	2: 60,255,791 (GRCm39)	V1251D	probably damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Plec	A	G	15: 76,057,275 (GRCm39)	S4221P	probably damaging	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rab3ip	G	A	10: 116,775,310 (GRCm39)	S16L	probably damaging	Het
Rbm43	A	G	2: 51,824,930 (GRCm39)		probably benign	Het
Rpgrip1l	T	C	8: 92,014,303 (GRCm39)	N314D	possibly damaging	Het
Rpn2	C	T	2: 157,125,567 (GRCm39)	T26I	possibly damaging	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Sh3rf1	C	A	8: 61,802,493 (GRCm39)	D275E	probably benign	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Spock1	A	T	13: 57,570,956 (GRCm39)	F348I	unknown	Het
Sptlc2	T	C	12: 87,382,839 (GRCm39)	K422E	probably benign	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Tnfaip1	G	T	11: 78,420,965 (GRCm39)	L32I	probably damaging	Het
Tox2	T	C	2: 163,067,481 (GRCm39)	C67R	probably benign	Het
Ube2o	C	T	11: 116,436,209 (GRCm39)	G311S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Xaf1	A	G	11: 72,197,419 (GRCm39)	K132E	probably benign	Het
Zeb1	T	C	18: 5,766,716 (GRCm39)	L409S	probably damaging	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	probably damaging	Het

Other mutations in Dmtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Dmtn	APN	14	70,842,259 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dmtn	APN	14	70,853,518 (GRCm39)	missense	probably damaging	1.00
R1248:Dmtn	UTSW	14	70,850,098 (GRCm39)	splice site	probably benign
R2428:Dmtn	UTSW	14	70,850,843 (GRCm39)	missense	probably damaging	1.00
R3438:Dmtn	UTSW	14	70,850,156 (GRCm39)	missense	probably damaging	0.98
R4851:Dmtn	UTSW	14	70,842,254 (GRCm39)	missense	probably damaging	1.00
R4917:Dmtn	UTSW	14	70,843,159 (GRCm39)	missense	probably damaging	0.98
R4924:Dmtn	UTSW	14	70,855,399 (GRCm39)	missense	probably benign	0.25
R5633:Dmtn	UTSW	14	70,842,419 (GRCm39)	missense	probably benign	0.18
R6170:Dmtn	UTSW	14	70,854,795 (GRCm39)	missense	probably damaging	1.00
R6214:Dmtn	UTSW	14	70,850,776 (GRCm39)	missense	probably benign	0.05
R6215:Dmtn	UTSW	14	70,850,776 (GRCm39)	missense	probably benign	0.05
R6639:Dmtn	UTSW	14	70,854,870 (GRCm39)	missense	probably damaging	1.00
R6860:Dmtn	UTSW	14	70,852,322 (GRCm39)	missense	possibly damaging	0.94
R7139:Dmtn	UTSW	14	70,854,867 (GRCm39)	missense	probably benign	0.12
R7242:Dmtn	UTSW	14	70,855,460 (GRCm39)	missense	probably damaging	1.00
R7380:Dmtn	UTSW	14	70,854,768 (GRCm39)	missense	probably damaging	0.99
R7572:Dmtn	UTSW	14	70,842,777 (GRCm39)	missense	possibly damaging	0.93
R8806:Dmtn	UTSW	14	70,852,388 (GRCm39)	missense	probably benign	0.26
R8888:Dmtn	UTSW	14	70,850,144 (GRCm39)	missense	probably benign	0.18
R8895:Dmtn	UTSW	14	70,850,144 (GRCm39)	missense	probably benign	0.18
R9027:Dmtn	UTSW	14	70,853,555 (GRCm39)	missense	probably damaging	0.99
R9032:Dmtn	UTSW	14	70,853,534 (GRCm39)	missense	probably damaging	0.99
R9694:Dmtn	UTSW	14	70,852,732 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAAAGAGAGTCCCTGGGTCTG -3'
(R):5'- TCCCATATCCAAGCTTCACATG -3'

Sequencing Primer
(F):5'- TGGCAGACAGATGAGTTGGCC -3'
(R):5'- TATCCAAGCTTCACATGAAAAGACAG -3'

Posted On

2021-12-30