Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Hand2'

276728

Institutional Source

Beutler Lab

Gene Symbol

Hand2

Ensembl Gene

ENSMUSG00000038193

Gene Name

heart and neural crest derivatives expressed 2

Synonyms

Thing2, dHAND, Hed, Ehand2, bHLHa26

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3874 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

57774018-57777552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57775011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 24 (A24S)

Ref Sequence

ENSEMBL: ENSMUSP00000044983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040104]

AlphaFold

Q61039

Predicted Effect

probably benign
Transcript: ENSMUST00000040104
AA Change: A24S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000044983
Gene: ENSMUSG00000038193
AA Change: A24S

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
low complexity region	21	32	N/A	INTRINSIC
low complexity region	81	102	N/A	INTRINSIC
HLH	105	157	3.91e-17	SMART
low complexity region	172	184	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189169

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225650

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of the neural crest component of branchial and aortic arches and die from heart failure at embryonic day 10.5. Targeted branchial arch specific enhancer mutants show craniofacial defects and die perinatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,727,074 (GRCm39)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,833,916 (GRCm39)	L294P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het
Zfp568	T	A	7: 29,722,821 (GRCm39)	C589S	probably damaging	Het

Other mutations in Hand2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5287:Hand2	UTSW	8	57,775,080 (GRCm39)	missense	probably damaging	0.98
R6534:Hand2	UTSW	8	57,775,071 (GRCm39)	missense	probably benign	0.19
R7552:Hand2	UTSW	8	57,775,272 (GRCm39)	missense	probably damaging	1.00
R8245:Hand2	UTSW	8	57,774,994 (GRCm39)	missense	probably damaging	0.99
R8428:Hand2	UTSW	8	57,775,461 (GRCm39)	missense	probably benign	0.00
R8730:Hand2	UTSW	8	57,775,468 (GRCm39)	missense	probably benign	0.00
R9077:Hand2	UTSW	8	57,776,836 (GRCm39)	missense	probably damaging	0.99
Z1177:Hand2	UTSW	8	57,775,048 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCATCTTCGGAGTCAGGAGTCC -3'
(R):5'- ATAATGGGAGTGGTCCAGGC -3'

Sequencing Primer
(F):5'- AGTCAGGAGTCCCGTGG -3'
(R):5'- ATAAGCCAGCCGTGGAA -3'

Posted On

2015-04-06