Mutagenetix > Incidental Mutation

Incidental Mutation 'R4818:Dennd4c'

369983

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86743511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1167 (S1167P)

Ref Sequence

ENSEMBL: ENSMUSP00000080685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

probably benign
Transcript: ENSMUST00000045512
AA Change: S1167P

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

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: S1167P

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.15e-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

Predicted Effect

probably benign
Transcript: ENSMUST00000082026
AA Change: S1167P

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

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: S1167P

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: S1118P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: S1118P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,571,810 (GRCm39)	E562G	probably benign	Het
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
A930033H14Rik	A	T	10: 69,048,190 (GRCm39)		probably benign	Het
Abca17	C	T	17: 24,536,135 (GRCm39)	E511K	probably damaging	Het
Abca9	C	T	11: 110,045,980 (GRCm39)		probably null	Het
Abhd5	T	A	9: 122,192,865 (GRCm39)		probably null	Het
Adra2b	G	A	2: 127,206,012 (GRCm39)	W171*	probably null	Het
Ahcyl	G	A	16: 45,974,555 (GRCm39)	T274I	probably damaging	Het
Aldh1l1	T	C	6: 90,573,897 (GRCm39)	Y799H	probably benign	Het
Arfgef1	A	G	1: 10,286,772 (GRCm39)	V46A	probably benign	Het
Arhgap40	A	G	2: 158,381,639 (GRCm39)	E374G	probably damaging	Het
Arhgef5	G	A	6: 43,250,484 (GRCm39)	V412I	probably benign	Het
Arid3c	T	C	4: 41,730,072 (GRCm39)	E41G	possibly damaging	Het
Atp8b4	T	A	2: 126,164,736 (GRCm39)	K1193N	probably benign	Het
C4a	C	T	17: 35,035,975 (GRCm39)		noncoding transcript	Het
Chst2	C	T	9: 95,287,417 (GRCm39)	D310N	probably damaging	Het
Crtc3	T	C	7: 80,327,170 (GRCm39)	Q52R	possibly damaging	Het
Crybg1	T	C	10: 43,874,583 (GRCm39)	I842V	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Epha10	T	A	4: 124,780,007 (GRCm39)		probably null	Het
Epha6	C	A	16: 59,474,426 (GRCm39)	R1117L	probably damaging	Het
Fdx2	T	C	9: 20,979,160 (GRCm39)	I144V	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Hus1	A	G	11: 8,946,808 (GRCm39)		probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Inpp5f	A	G	7: 128,286,853 (GRCm39)	I577M	probably damaging	Het
Kansl2	G	A	15: 98,424,542 (GRCm39)	T296I	possibly damaging	Het
Kcna6	A	G	6: 126,715,387 (GRCm39)	F501L	probably benign	Het
Kirrel2	A	T	7: 30,149,293 (GRCm39)	V579D	probably benign	Het
Larp1b	T	C	3: 40,925,005 (GRCm39)	Y208H	probably damaging	Het
Lipf	A	T	19: 33,943,088 (GRCm39)	D132V	probably benign	Het
Lsm12	T	C	11: 102,057,989 (GRCm39)	K40E	probably damaging	Het
Mastl	A	G	2: 23,027,038 (GRCm39)	S275P	probably benign	Het
Mettl25b	C	A	3: 87,832,305 (GRCm39)	R293L	probably benign	Het
Mrpl44	A	G	1: 79,758,694 (GRCm39)	I281V	probably benign	Het
Mtf1	T	A	4: 124,698,505 (GRCm39)	M1K	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh2	G	A	11: 67,067,081 (GRCm39)	G179R	probably damaging	Het
Nfasc	T	C	1: 132,531,568 (GRCm39)	T739A	possibly damaging	Het
Nfatc3	G	A	8: 106,835,011 (GRCm39)	V778I	probably benign	Het
Notch4	A	G	17: 34,797,690 (GRCm39)		probably benign	Het
Npm2	T	C	14: 70,889,842 (GRCm39)	N24S	probably benign	Het
Obox7	T	A	7: 14,398,410 (GRCm39)	L108Q	probably damaging	Het
Or51ah3	T	A	7: 103,209,968 (GRCm39)	F95I	probably benign	Het
Pax3	A	G	1: 78,108,869 (GRCm39)	V263A	probably damaging	Het
Pdlim1	C	T	19: 40,211,580 (GRCm39)	V238I	probably damaging	Het
Pik3ip1	G	A	11: 3,280,928 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,546,442 (GRCm39)	V284A	possibly damaging	Het
Rad9b	G	A	5: 122,477,839 (GRCm39)	T179I	probably damaging	Het
Sirt4	G	T	5: 115,617,785 (GRCm39)	D290E	possibly damaging	Het
Skint6	T	A	4: 112,812,589 (GRCm39)		probably benign	Het
Slc18a1	A	C	8: 69,492,951 (GRCm39)	I466S	probably damaging	Het
Slc35e4	C	T	11: 3,862,889 (GRCm39)	R100H	probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Tas1r1	C	G	4: 152,117,131 (GRCm39)	V168L	probably benign	Het
Tmem233	T	A	5: 116,221,222 (GRCm39)	Q8L	possibly damaging	Het
Ttc17	G	T	2: 94,163,236 (GRCm39)	Q862K	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp1004	T	A	2: 150,033,981 (GRCm39)	C132S	probably damaging	Het
Zfp229	T	C	17: 21,962,885 (GRCm39)	I68T	probably benign	Het
Zfp423	A	G	8: 88,631,128 (GRCm39)	V30A	probably benign	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
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
R6855:Dennd4c	UTSW	4	86,754,694 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- TTAGTTCTGAAAGTCGAGCGGG -3'
(R):5'- TTCACTGGATCTTGGGCTCC -3'

Sequencing Primer
(F):5'- CAGTTTGGACCTGAATTCAAGCG -3'
(R):5'- CCAGCTTGTGTGTCTCTGGAC -3'

Posted On

2016-02-04