Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Dennd4c'

535186

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86754694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 1568 (H1568P)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

probably benign
Transcript: ENSMUST00000082026
AA Change: H1617P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: H1617P

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	3.19e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC
low complexity region	1724	1739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142837
AA Change: H1568P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: H1568P

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.68e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	934	952	N/A	INTRINSIC
low complexity region	964	976	N/A	INTRINSIC
low complexity region	996	1003	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1328	1343	N/A	INTRINSIC
low complexity region	1423	1437	N/A	INTRINSIC
low complexity region	1675	1690	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	probably damaging	Het

Other mutations in Dennd4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dennd4c	APN	4	86,723,724 (GRCm39)	splice site	probably benign
IGL01810:Dennd4c	APN	4	86,717,788 (GRCm39)	missense	possibly damaging	0.94
IGL02203:Dennd4c	APN	4	86,721,173 (GRCm39)	missense	probably benign	0.00
IGL02217:Dennd4c	APN	4	86,732,036 (GRCm39)	missense	probably benign
IGL02236:Dennd4c	APN	4	86,725,672 (GRCm39)	missense	possibly damaging	0.68
IGL02256:Dennd4c	APN	4	86,717,778 (GRCm39)	missense	probably damaging	0.96
IGL02396:Dennd4c	APN	4	86,743,237 (GRCm39)	missense	probably damaging	1.00
IGL02523:Dennd4c	APN	4	86,692,490 (GRCm39)	unclassified	probably benign
IGL02615:Dennd4c	APN	4	86,739,704 (GRCm39)	missense	probably benign	0.00
IGL03069:Dennd4c	APN	4	86,692,674 (GRCm39)	nonsense	probably null
IGL03116:Dennd4c	APN	4	86,707,057 (GRCm39)	splice site	probably benign
IGL03117:Dennd4c	APN	4	86,696,140 (GRCm39)	missense	possibly damaging	0.95
IGL03273:Dennd4c	APN	4	86,696,033 (GRCm39)	missense	probably damaging	1.00
IGL03329:Dennd4c	APN	4	86,696,113 (GRCm39)	missense	probably damaging	1.00
IGL03365:Dennd4c	APN	4	86,725,663 (GRCm39)	critical splice acceptor site	probably null
PIT4486001:Dennd4c	UTSW	4	86,717,701 (GRCm39)	nonsense	probably null
R0010:Dennd4c	UTSW	4	86,699,814 (GRCm39)	missense	probably damaging	1.00
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0092:Dennd4c	UTSW	4	86,699,844 (GRCm39)	missense	probably damaging	1.00
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0511:Dennd4c	UTSW	4	86,744,259 (GRCm39)	missense	probably damaging	1.00
R0515:Dennd4c	UTSW	4	86,731,703 (GRCm39)	missense	possibly damaging	0.94
R0578:Dennd4c	UTSW	4	86,730,659 (GRCm39)	missense	probably damaging	1.00
R0759:Dennd4c	UTSW	4	86,707,066 (GRCm39)	missense	probably damaging	1.00
R0784:Dennd4c	UTSW	4	86,763,145 (GRCm39)	missense	probably benign	0.37
R1156:Dennd4c	UTSW	4	86,725,703 (GRCm39)	missense	probably damaging	1.00
R1370:Dennd4c	UTSW	4	86,729,747 (GRCm39)	missense	probably damaging	1.00
R1381:Dennd4c	UTSW	4	86,692,769 (GRCm39)	missense	probably benign	0.24
R1569:Dennd4c	UTSW	4	86,704,331 (GRCm39)	missense	possibly damaging	0.59
R1747:Dennd4c	UTSW	4	86,725,675 (GRCm39)	missense	probably damaging	1.00
R1764:Dennd4c	UTSW	4	86,721,247 (GRCm39)	missense	probably damaging	1.00
R1838:Dennd4c	UTSW	4	86,743,415 (GRCm39)	missense	probably benign	0.00
R1997:Dennd4c	UTSW	4	86,755,634 (GRCm39)	missense	probably benign
R2244:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R2348:Dennd4c	UTSW	4	86,729,764 (GRCm39)	missense	probably benign	0.04
R2968:Dennd4c	UTSW	4	86,699,881 (GRCm39)	missense	possibly damaging	0.93
R3033:Dennd4c	UTSW	4	86,743,557 (GRCm39)	small deletion	probably benign
R3401:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3402:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3403:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3855:Dennd4c	UTSW	4	86,698,084 (GRCm39)	missense	probably damaging	1.00
R3939:Dennd4c	UTSW	4	86,692,517 (GRCm39)	missense	probably damaging	1.00
R4164:Dennd4c	UTSW	4	86,725,764 (GRCm39)	missense	probably benign	0.01
R4384:Dennd4c	UTSW	4	86,729,687 (GRCm39)	missense	probably damaging	1.00
R4435:Dennd4c	UTSW	4	86,716,312 (GRCm39)	missense	probably benign	0.44
R4788:Dennd4c	UTSW	4	86,738,200 (GRCm39)	missense	probably benign	0.00
R4801:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4802:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4818:Dennd4c	UTSW	4	86,743,511 (GRCm39)	missense	probably benign	0.00
R4923:Dennd4c	UTSW	4	86,725,775 (GRCm39)	missense	probably damaging	1.00
R4958:Dennd4c	UTSW	4	86,699,916 (GRCm39)	missense	probably damaging	1.00
R5025:Dennd4c	UTSW	4	86,713,536 (GRCm39)	critical splice donor site	probably null
R5434:Dennd4c	UTSW	4	86,729,693 (GRCm39)	missense	probably benign	0.10
R5662:Dennd4c	UTSW	4	86,713,525 (GRCm39)	missense	probably benign	0.13
R5802:Dennd4c	UTSW	4	86,729,690 (GRCm39)	missense	probably benign	0.02
R5849:Dennd4c	UTSW	4	86,744,223 (GRCm39)	missense	possibly damaging	0.58
R5861:Dennd4c	UTSW	4	86,709,589 (GRCm39)	missense	probably benign	0.30
R5970:Dennd4c	UTSW	4	86,743,749 (GRCm39)	missense	probably damaging	1.00
R6163:Dennd4c	UTSW	4	86,723,828 (GRCm39)	missense	possibly damaging	0.56
R6356:Dennd4c	UTSW	4	86,743,686 (GRCm39)	missense	probably benign
R6661:Dennd4c	UTSW	4	86,717,626 (GRCm39)	missense	possibly damaging	0.66
R6983:Dennd4c	UTSW	4	86,717,730 (GRCm39)	missense	probably damaging	1.00
R7035:Dennd4c	UTSW	4	86,730,574 (GRCm39)	missense	probably damaging	1.00
R7126:Dennd4c	UTSW	4	86,725,667 (GRCm39)	missense	probably damaging	1.00
R7185:Dennd4c	UTSW	4	86,729,687 (GRCm39)	missense	probably damaging	1.00
R7212:Dennd4c	UTSW	4	86,721,228 (GRCm39)	missense	probably damaging	1.00
R7324:Dennd4c	UTSW	4	86,747,975 (GRCm39)	missense	unknown
R7329:Dennd4c	UTSW	4	86,698,111 (GRCm39)	missense	possibly damaging	0.81
R7329:Dennd4c	UTSW	4	86,759,318 (GRCm39)	missense	probably damaging	1.00
R7466:Dennd4c	UTSW	4	86,692,568 (GRCm39)	missense	probably damaging	0.99
R7479:Dennd4c	UTSW	4	86,717,590 (GRCm39)	missense	probably damaging	1.00
R7538:Dennd4c	UTSW	4	86,692,753 (GRCm39)	missense	probably damaging	1.00
R7599:Dennd4c	UTSW	4	86,729,849 (GRCm39)	missense	probably damaging	1.00
R7688:Dennd4c	UTSW	4	86,713,377 (GRCm39)	missense	probably damaging	1.00
R7725:Dennd4c	UTSW	4	86,704,330 (GRCm39)	missense	probably benign	0.00
R7751:Dennd4c	UTSW	4	86,747,179 (GRCm39)	missense	probably benign	0.05
R7790:Dennd4c	UTSW	4	86,717,754 (GRCm39)	missense	probably damaging	0.96
R8056:Dennd4c	UTSW	4	86,763,213 (GRCm39)	missense	probably null	0.71
R8307:Dennd4c	UTSW	4	86,744,109 (GRCm39)	missense	probably benign	0.12
R8494:Dennd4c	UTSW	4	86,759,312 (GRCm39)	missense	probably damaging	1.00
R8531:Dennd4c	UTSW	4	86,744,319 (GRCm39)	critical splice donor site	probably null
R9014:Dennd4c	UTSW	4	86,754,666 (GRCm39)	missense	probably benign	0.00
R9014:Dennd4c	UTSW	4	86,739,702 (GRCm39)	missense	probably benign	0.07
R9017:Dennd4c	UTSW	4	86,743,349 (GRCm39)	missense	probably benign	0.33
R9142:Dennd4c	UTSW	4	86,755,637 (GRCm39)	missense	probably benign	0.32
R9224:Dennd4c	UTSW	4	86,738,170 (GRCm39)	nonsense	probably null
R9570:Dennd4c	UTSW	4	86,747,208 (GRCm39)	missense	possibly damaging	0.71
R9644:Dennd4c	UTSW	4	86,713,363 (GRCm39)	missense	probably damaging	0.99
R9649:Dennd4c	UTSW	4	86,743,160 (GRCm39)	missense	probably benign	0.00
R9658:Dennd4c	UTSW	4	86,754,625 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2018-09-12