Mutagenetix > Incidental Mutation

Incidental Mutation 'R4744:Dhh'

397278

Institutional Source

Beutler Lab

Gene Symbol

Dhh

Ensembl Gene

ENSMUSG00000023000

Gene Name

desert hedgehog

Synonyms

MMRRC Submission

042027-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R4744 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98789033-98796421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98792139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 290 (F290L)

Ref Sequence

ENSEMBL: ENSMUSP00000023737 (fasta)

Gene Model

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

AlphaFold

Q61488

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023737
AA Change: F290L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023737
Gene: ENSMUSG00000023000
AA Change: F290L

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 benign
Transcript: ENSMUST00000229508

Predicted Effect

probably benign
Transcript: ENSMUST00000229556

Predicted Effect

probably benign
Transcript: ENSMUST00000229775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230242

Meta Mutation Damage Score

0.8317

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (82/83)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,017,617 (GRCm39)	S143P	possibly damaging	Het
4933427D14Rik	T	C	11: 72,066,365 (GRCm39)	K614E	probably damaging	Het
Aatk	A	G	11: 119,906,948 (GRCm39)	M155T	possibly damaging	Het
Acvr2b	T	C	9: 119,260,328 (GRCm39)	L333P	probably damaging	Het
Adam22	T	C	5: 8,128,699 (GRCm39)	E865G	probably damaging	Het
Add2	A	G	6: 86,087,870 (GRCm39)	S358G	probably damaging	Het
Agap2	T	C	10: 126,926,072 (GRCm39)		probably null	Het
Alkbh8	G	A	9: 3,344,604 (GRCm39)	W49*	probably null	Het
AU015228	A	T	2: 129,942,549 (GRCm39)		noncoding transcript	Het
Bank1	G	T	3: 135,953,450 (GRCm39)	R102S	probably benign	Het
Brap	T	A	5: 121,800,193 (GRCm39)	D27E	probably damaging	Het
Cyb5r2	G	T	7: 107,349,484 (GRCm39)	H276N	possibly damaging	Het
Dhrs7	T	A	12: 72,699,025 (GRCm39)	N319I	possibly damaging	Het
Ebpl	A	G	14: 61,597,682 (GRCm39)	V53A	probably damaging	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
Etnk1	A	C	6: 143,132,319 (GRCm39)	N220T	probably damaging	Het
F11r	T	A	1: 171,288,166 (GRCm39)	V64D	probably benign	Het
Fam171a1	T	C	2: 3,225,946 (GRCm39)	S360P	probably damaging	Het
Fignl1	A	G	11: 11,751,585 (GRCm39)	M490T	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,265 (GRCm39)	M75K	probably benign	Het
Fzd7	T	A	1: 59,523,595 (GRCm39)	F493I	possibly damaging	Het
Galnt14	G	T	17: 73,814,828 (GRCm39)	P412T	probably damaging	Het
Gcg	T	A	2: 62,308,975 (GRCm39)	S60C	probably damaging	Het
Ggt1	A	G	10: 75,421,733 (GRCm39)	K527E	probably benign	Het
Gm16551	T	A	9: 74,758,153 (GRCm39)		noncoding transcript	Het
Gm9972	A	G	11: 42,927,517 (GRCm39)	K55E	unknown	Het
Gpr141	T	A	13: 19,935,884 (GRCm39)	D297V	probably benign	Het
Grin2b	G	A	6: 135,755,697 (GRCm39)	S539L	probably damaging	Het
Hhipl1	A	T	12: 108,286,238 (GRCm39)	N515I	possibly damaging	Het
Hmcn1	T	G	1: 150,453,363 (GRCm39)	E5317D	probably damaging	Het
Hsf5	T	A	11: 87,513,617 (GRCm39)	N227K	probably benign	Het
Igfn1	A	T	1: 135,910,196 (GRCm39)	D129E	probably benign	Het
Invs	T	C	4: 48,397,609 (GRCm39)	F339L	probably damaging	Het
Jak2	T	A	19: 29,239,656 (GRCm39)	S17T	probably benign	Het
Mdga2	T	A	12: 66,844,501 (GRCm39)	I166F	probably benign	Het
Nck1	T	C	9: 100,388,797 (GRCm39)	I6V	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nmur2	A	G	11: 55,931,661 (GRCm39)	Y17H	probably benign	Het
Nwd2	T	C	5: 63,964,310 (GRCm39)	L1298P	probably damaging	Het
Ocel1	A	G	8: 71,825,397 (GRCm39)	E161G	probably damaging	Het
Or1j16	A	T	2: 36,530,991 (GRCm39)		probably null	Het
Pabpc2	A	G	18: 39,907,881 (GRCm39)	Y382C	probably benign	Het
Panx1	A	G	9: 14,921,594 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,872,641 (GRCm39)	V147D	probably benign	Het
Pigz	A	T	16: 31,764,151 (GRCm39)	H403L	probably damaging	Het
Pilra	T	C	5: 137,833,769 (GRCm39)		probably null	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Rhobtb2	A	G	14: 70,031,451 (GRCm39)	L558P	probably damaging	Het
Scarf2	G	A	16: 17,621,380 (GRCm39)	R322H	probably damaging	Het
Septin3	T	C	15: 82,174,658 (GRCm39)		probably null	Het
Sirt2	T	C	7: 28,476,438 (GRCm39)	F26L	probably damaging	Het
Slc1a1	A	T	19: 28,871,925 (GRCm39)	T133S	probably benign	Het
Slc1a2	A	G	2: 102,568,214 (GRCm39)	I84V	probably benign	Het
Slc28a2b	A	T	2: 122,353,286 (GRCm39)	K489*	probably null	Het
Slc6a9	A	T	4: 117,725,092 (GRCm39)	Q562L	probably benign	Het
Snx29	C	T	16: 11,167,773 (GRCm39)	Q25*	probably null	Het
St6galnac6	A	G	2: 32,508,555 (GRCm39)	I231V	probably damaging	Het
Stard9	A	G	2: 120,526,604 (GRCm39)	T954A	probably benign	Het
Sufu	A	G	19: 46,472,069 (GRCm39)	M443V	possibly damaging	Het
Sv2b	T	C	7: 74,856,266 (GRCm39)	D8G	probably benign	Het
Tapbpl	G	A	6: 125,205,248 (GRCm39)	R233W	probably damaging	Het
Tex10	A	G	4: 48,469,990 (GRCm39)	L25S	probably benign	Het
Trp53bp1	A	T	2: 121,041,794 (GRCm39)	V1254D	probably damaging	Het
Ugt3a1	T	A	15: 9,310,639 (GRCm39)	I307N	probably benign	Het
Unc13c	T	C	9: 73,839,126 (GRCm39)	D575G	probably damaging	Het
Usf2	A	T	7: 30,654,197 (GRCm39)	D166E	probably damaging	Het
Usp25	T	A	16: 76,911,877 (GRCm39)	L969M	probably damaging	Het
Usp32	G	A	11: 84,885,219 (GRCm39)	P1276L	probably damaging	Het
Vmn2r8	T	A	5: 108,956,447 (GRCm39)	E58D	probably benign	Het
Zfp462	G	T	4: 55,011,598 (GRCm39)	C40F	probably damaging	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
IGL02728:Dhh	APN	15	98,792,192 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCACTGGTGACTCTCTAGAAC -3'
(R):5'- TACATCGTGGTGACTGGGTAC -3'

Sequencing Primer
(F):5'- TGACTCTCTAGAACCGCGTAG -3'
(R):5'- TACTGGCCGCTGATGCAG -3'

Posted On

2016-07-05