Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Dhh'

305344

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhh

Ensembl Gene

ENSMUSG00000023000

Gene Name

desert hedgehog

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

98789033-98796421 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 98792192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023737] [ENSMUST00000229508] [ENSMUST00000229556] [ENSMUST00000229775]

AlphaFold

Q61488

Predicted Effect

probably damaging
Transcript: ENSMUST00000023737
AA Change: L272Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: L272Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:HH_signal	23	185	2.1e-86	PFAM
Pfam:Peptidase_M15_3	129	185	5.9e-8	PFAM
HintN	197	304	1.29e-25	SMART
HintC	305	349	1.89e-9	SMART
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229352

Predicted Effect

probably null
Transcript: ENSMUST00000229508

Predicted Effect

probably benign
Transcript: ENSMUST00000229556

Predicted Effect

probably benign
Transcript: ENSMUST00000229775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230242

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mutants are male sterile, failing to produce mature spermatozoa; peripheral nerves are abnormal, with thin and disorganized perineurial sheaths. High penetrance of pseudohermaphroditism observed on some mixed backgrounds. [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
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Fkbp10	G	T	11: 100,306,803 (GRCm39)	R65L	probably damaging	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rassf5	T	C	1: 131,108,336 (GRCm39)	D248G	probably damaging	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Slc7a10	T	A	7: 34,897,123 (GRCm39)	I208N	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tacc1	T	C	8: 25,665,235 (GRCm39)	D50G	probably damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trim36	T	A	18: 46,305,669 (GRCm39)	H426L	probably benign	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Dhh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Dhh	APN	15	98,796,101 (GRCm39)	unclassified	probably benign
IGL01845:Dhh	APN	15	98,795,864 (GRCm39)	missense	probably damaging	1.00
R0096:Dhh	UTSW	15	98,791,869 (GRCm39)	missense	probably benign	0.00
R1294:Dhh	UTSW	15	98,792,264 (GRCm39)	missense	probably benign	0.00
R1842:Dhh	UTSW	15	98,792,441 (GRCm39)	splice site	probably null
R4351:Dhh	UTSW	15	98,796,099 (GRCm39)	unclassified	probably benign
R4727:Dhh	UTSW	15	98,796,023 (GRCm39)	missense	probably damaging	0.99
R4744:Dhh	UTSW	15	98,792,139 (GRCm39)	missense	possibly damaging	0.86
R5120:Dhh	UTSW	15	98,796,038 (GRCm39)	missense	probably benign	0.05
R6419:Dhh	UTSW	15	98,792,282 (GRCm39)	missense	probably damaging	1.00
R6630:Dhh	UTSW	15	98,792,247 (GRCm39)	missense	possibly damaging	0.86
R7031:Dhh	UTSW	15	98,791,907 (GRCm39)	missense	possibly damaging	0.84
R7032:Dhh	UTSW	15	98,791,907 (GRCm39)	missense	possibly damaging	0.84
R7330:Dhh	UTSW	15	98,792,291 (GRCm39)	missense	probably damaging	1.00
R8975:Dhh	UTSW	15	98,795,976 (GRCm39)	missense	probably damaging	1.00
R9228:Dhh	UTSW	15	98,795,757 (GRCm39)	nonsense	probably null
R9755:Dhh	UTSW	15	98,792,939 (GRCm39)	missense	possibly damaging	0.53
X0060:Dhh	UTSW	15	98,792,190 (GRCm39)	missense	possibly damaging	0.95
Z1088:Dhh	UTSW	15	98,792,790 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16