Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Dmtn'

677515

Institutional Source

Beutler Lab

Gene Symbol

Dmtn

Ensembl Gene

ENSMUSG00000022099

Gene Name

dematin actin binding protein

Synonyms

dematin, Epb4.9

MMRRC Submission

068692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70839624-70873488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70850144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000022694 (fasta)

Gene Model

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

AlphaFold

Q9WV69

Predicted Effect

probably benign
Transcript: ENSMUST00000022694
AA Change: T267A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: T267A

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 benign
Transcript: ENSMUST00000022695
AA Change: T242A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: T242A

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 benign
Transcript: ENSMUST00000110984
AA Change: T267A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: T267A

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: ENSMUST00000227331

Predicted Effect

probably benign
Transcript: ENSMUST00000228001
AA Change: T242A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000228009
AA Change: T267A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000228295
AA Change: T242A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000228824
AA Change: T242A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,338,568 (GRCm39)		probably null	Het
Atp8b5	A	G	4: 43,304,687 (GRCm39)	N66S		Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,835,533 (GRCm39)	S24N	probably null	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Capn12	T	A	7: 28,585,949 (GRCm39)		probably benign	Het
Cdh1	T	A	8: 107,330,971 (GRCm39)	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,852,092 (GRCm39)	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,732,936 (GRCm39)	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,379,139 (GRCm39)	A850T	unknown	Het
Cped1	C	T	6: 22,016,962 (GRCm39)	P104S	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dop1a	A	G	9: 86,403,587 (GRCm39)	I132V	probably benign	Het
Dpysl5	C	T	5: 30,902,687 (GRCm39)	R40C	probably benign	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Epg5	C	A	18: 78,056,086 (GRCm39)	D1753E	possibly damaging	Het
Ext1	T	C	15: 52,955,723 (GRCm39)	Y458C	probably damaging	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Frmd6	C	A	12: 70,940,646 (GRCm39)	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Htr2a	C	T	14: 74,882,617 (GRCm39)	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Nek5	C	T	8: 22,580,495 (GRCm39)		probably null	Het
Nlrc5	G	A	8: 95,252,118 (GRCm39)	V1880I	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or4f62	G	A	2: 111,986,974 (GRCm39)	R226H	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Pccb	A	T	9: 100,905,305 (GRCm39)		probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,676,092 (GRCm39)	K79*	probably null	Het
Pou3f1	C	G	4: 124,552,152 (GRCm39)	A218G	possibly damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spdye4a	T	G	5: 143,211,418 (GRCm39)	S49R	probably benign	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Syt14	A	G	1: 192,579,866 (GRCm39)	S473P	probably damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Usp2	G	T	9: 43,986,894 (GRCm39)	R64L	probably benign	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
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
R9085: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'- TAAAGGAGTACACCTGTGGGC -3'
(R):5'- AATTTGCTTGAGTGCCCAGTAAG -3'

Sequencing Primer
(F):5'- AGTACACCTGTGGGCCTCAC -3'
(R):5'- CTTGAGTGCCCAGTAAGATCAACG -3'

Posted On

2021-08-02