Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Dnai4'

204579

Institutional Source

Beutler Lab

Gene Symbol

Dnai4

Ensembl Gene

ENSMUSG00000035126

Gene Name

dynein axonemal intermediate chain 4

Synonyms

Wdr78

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102895262-102971521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102929854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 56 (V56A)

Ref Sequence

ENSEMBL: ENSMUSP00000042272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]

AlphaFold

E9PYY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036451
AA Change: V379A

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: V379A

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036557
AA Change: V56A

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: V56A

Domain	Start	End	E-Value	Type
low complexity region	59	67	N/A	INTRINSIC
low complexity region	76	100	N/A	INTRINSIC
WD40	133	172	9.24e-4	SMART
WD40	182	229	5.7e1	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	262	296	2e-12	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106868
AA Change: V379A

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: V379A

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	8.61e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART
low complexity region	601	613	N/A	INTRINSIC
Blast:WD40	614	648	3e-12	BLAST
WD40	652	692	2.38e-6	SMART
WD40	695	734	1.48e-2	SMART
WD40	739	779	6.14e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116316
AA Change: V379A

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: V379A

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138960

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,857 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,454,876 (GRCm39)	N564K	probably benign	Het
Ahi1	A	G	10: 20,864,461 (GRCm39)	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,331,725 (GRCm39)	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,814,553 (GRCm39)	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,267 (GRCm39)	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,608,212 (GRCm39)	N561S	possibly damaging	Het
Apob	A	G	12: 8,056,834 (GRCm39)	N1739S	probably damaging	Het
Apob	A	G	12: 8,063,064 (GRCm39)	T236A	possibly damaging	Het
Birc6	G	A	17: 74,956,844 (GRCm39)	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccl20	A	G	1: 83,095,529 (GRCm39)	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,795,576 (GRCm39)	T106I	probably damaging	Het
Cebpz	A	G	17: 79,242,805 (GRCm39)	L283P	probably damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Clec4e	T	A	6: 123,262,452 (GRCm39)	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,379,386 (GRCm39)		probably null	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Denr	T	A	5: 124,055,283 (GRCm39)	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,526,568 (GRCm39)		probably null	Het
Dnaaf3	G	T	7: 4,526,569 (GRCm39)	L503M	probably benign	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Efcab3	T	A	11: 104,612,333 (GRCm39)	L652Q	probably benign	Het
Ehd4	C	T	2: 119,932,885 (GRCm39)	W180*	probably null	Het
Ephb2	A	G	4: 136,382,647 (GRCm39)	S984P	probably benign	Het
Eva1a	T	C	6: 82,048,125 (GRCm39)	M1T	probably null	Het
Fam90a1a	C	G	8: 22,453,787 (GRCm39)	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 22,453,788 (GRCm39)	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,447 (GRCm39)	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,072,711 (GRCm39)	L612Q	probably damaging	Het
Fubp1	T	A	3: 151,927,806 (GRCm39)	N419K	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Golga4	T	G	9: 118,402,055 (GRCm39)	V91G	probably damaging	Het
Hip1r	T	C	5: 124,134,018 (GRCm39)		probably null	Het
Ice2	A	G	9: 69,339,383 (GRCm39)	S967G	probably benign	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Impdh2	T	G	9: 108,440,411 (GRCm39)		probably null	Het
Inmt	C	A	6: 55,150,404 (GRCm39)	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,287,886 (GRCm39)	S637G	probably benign	Het
Kansl1	T	C	11: 104,233,283 (GRCm39)	H748R	possibly damaging	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Kifc2	T	C	15: 76,550,281 (GRCm39)	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,784,484 (GRCm39)	Y71H	probably damaging	Het
Ly75	T	G	2: 60,142,121 (GRCm39)	T1330P	probably damaging	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,152,111 (GRCm39)	I198T	possibly damaging	Het
Morc3	A	G	16: 93,652,398 (GRCm39)	Y367C	probably damaging	Het
Mtfr1	A	G	3: 19,269,837 (GRCm39)	T162A	probably damaging	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nup153	A	T	13: 46,835,113 (GRCm39)	N1397K	possibly damaging	Het
Or5h26	T	C	16: 58,988,243 (GRCm39)	K88E	probably benign	Het
Or6x1	T	C	9: 40,098,558 (GRCm39)	V49A	probably benign	Het
Or8b36	T	C	9: 37,937,803 (GRCm39)	S234P	probably damaging	Het
Or8g21	T	C	9: 38,905,902 (GRCm39)	I276M	possibly damaging	Het
Pabpc2	G	T	18: 39,907,163 (GRCm39)	V143L	probably damaging	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Patj	G	A	4: 98,511,885 (GRCm39)	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,103,877 (GRCm39)	K651*	probably null	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdha2	T	A	3: 140,916,960 (GRCm39)	K183*	probably null	Het
Pkd1l3	T	A	8: 110,375,038 (GRCm39)	C1504S	probably benign	Het
Plbd2	A	T	5: 120,625,574 (GRCm39)		probably null	Het
Poteg	G	A	8: 27,940,195 (GRCm39)	W121*	probably null	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Ptprf	A	G	4: 118,067,068 (GRCm39)	Y1883H	probably damaging	Het
Puf60	T	C	15: 75,943,323 (GRCm39)	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,704,420 (GRCm39)	I281M	probably benign	Het
Rufy1	T	C	11: 50,305,399 (GRCm39)	I305V	probably benign	Het
Shisa9	A	C	16: 12,085,426 (GRCm39)	Q329P	probably damaging	Het
Siglech	G	A	7: 55,418,332 (GRCm39)	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,144,169 (GRCm39)	Y303F	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Tecpr2	A	G	12: 110,892,888 (GRCm39)	Y310C	probably damaging	Het
Top1	T	A	2: 160,557,643 (GRCm39)	L575Q	probably damaging	Het
Usp16	C	T	16: 87,276,020 (GRCm39)	R452*	probably null	Het
Utrn	A	G	10: 12,585,708 (GRCm39)		probably null	Het
Vps13b	G	A	15: 35,877,723 (GRCm39)	G2899E	probably benign	Het
Wipi2	T	A	5: 142,643,963 (GRCm39)	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,270,596 (GRCm39)	E228A	probably damaging	Het
Zfp26	T	C	9: 20,353,487 (GRCm39)	T101A	probably benign	Het
Zfp593	A	T	4: 133,972,394 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp948	G	A	17: 21,805,069 (GRCm39)	V20M	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Dnai4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Dnai4	APN	4	102,960,439 (GRCm39)	missense	possibly damaging	0.77
IGL01508:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01509:Dnai4	APN	4	102,929,884 (GRCm39)	missense	possibly damaging	0.94
IGL01511:Dnai4	APN	4	102,905,558 (GRCm39)	missense	possibly damaging	0.81
IGL01693:Dnai4	APN	4	102,944,527 (GRCm39)	splice site	probably null
IGL01731:Dnai4	APN	4	102,919,632 (GRCm39)	missense	probably benign	0.01
IGL02033:Dnai4	APN	4	102,923,490 (GRCm39)	missense	possibly damaging	0.58
IGL02100:Dnai4	APN	4	102,907,346 (GRCm39)	missense	probably damaging	1.00
IGL02218:Dnai4	APN	4	102,953,971 (GRCm39)	missense	probably damaging	1.00
IGL02226:Dnai4	APN	4	102,947,595 (GRCm39)	missense	probably benign	0.00
IGL02476:Dnai4	APN	4	102,944,545 (GRCm39)	missense	possibly damaging	0.46
IGL02929:Dnai4	APN	4	102,917,188 (GRCm39)	nonsense	probably null
R0070:Dnai4	UTSW	4	102,917,131 (GRCm39)	missense	probably damaging	1.00
R0377:Dnai4	UTSW	4	102,905,456 (GRCm39)	missense	probably damaging	1.00
R0433:Dnai4	UTSW	4	102,960,450 (GRCm39)	missense	probably benign	0.41
R0518:Dnai4	UTSW	4	102,921,727 (GRCm39)	nonsense	probably null
R0538:Dnai4	UTSW	4	102,953,815 (GRCm39)	missense	possibly damaging	0.65
R0624:Dnai4	UTSW	4	102,930,054 (GRCm39)	splice site	probably benign
R0894:Dnai4	UTSW	4	102,906,583 (GRCm39)	intron	probably benign
R1463:Dnai4	UTSW	4	102,944,615 (GRCm39)	missense	possibly damaging	0.95
R2073:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2075:Dnai4	UTSW	4	102,907,390 (GRCm39)	missense	probably damaging	1.00
R2436:Dnai4	UTSW	4	102,923,549 (GRCm39)	missense	probably benign	0.01
R2851:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2852:Dnai4	UTSW	4	102,953,858 (GRCm39)	missense	probably benign	0.12
R2853:Dnai4	UTSW	4	102,907,355 (GRCm39)	missense	possibly damaging	0.90
R4491:Dnai4	UTSW	4	102,923,596 (GRCm39)	missense	probably benign	0.04
R4792:Dnai4	UTSW	4	102,929,881 (GRCm39)	missense	possibly damaging	0.94
R5223:Dnai4	UTSW	4	102,906,600 (GRCm39)	missense	possibly damaging	0.87
R5290:Dnai4	UTSW	4	102,906,730 (GRCm39)	missense	probably benign	0.00
R5465:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R5975:Dnai4	UTSW	4	102,906,786 (GRCm39)	missense	probably benign	0.03
R6239:Dnai4	UTSW	4	102,923,640 (GRCm39)	missense	probably benign
R6304:Dnai4	UTSW	4	102,944,553 (GRCm39)	missense	probably benign	0.35
R6456:Dnai4	UTSW	4	102,906,746 (GRCm39)	missense	probably benign	0.00
R6467:Dnai4	UTSW	4	102,906,758 (GRCm39)	missense	probably damaging	1.00
R6813:Dnai4	UTSW	4	102,905,523 (GRCm39)	missense	probably benign	0.26
R7161:Dnai4	UTSW	4	102,953,813 (GRCm39)	missense	probably benign	0.28
R7198:Dnai4	UTSW	4	102,919,610 (GRCm39)	missense	probably damaging	0.98
R7208:Dnai4	UTSW	4	102,923,549 (GRCm39)	missense	probably benign	0.00
R7320:Dnai4	UTSW	4	102,907,384 (GRCm39)	missense	possibly damaging	0.68
R7742:Dnai4	UTSW	4	102,947,630 (GRCm39)	missense	probably benign
R7939:Dnai4	UTSW	4	102,953,798 (GRCm39)	nonsense	probably null
R8120:Dnai4	UTSW	4	102,923,531 (GRCm39)	missense	probably damaging	1.00
R8353:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8453:Dnai4	UTSW	4	102,917,113 (GRCm39)	missense	possibly damaging	0.63
R8813:Dnai4	UTSW	4	102,947,697 (GRCm39)	missense	possibly damaging	0.53
R8870:Dnai4	UTSW	4	102,944,529 (GRCm39)	critical splice donor site	probably null
R8909:Dnai4	UTSW	4	102,944,607 (GRCm39)	missense	possibly damaging	0.91
R8957:Dnai4	UTSW	4	102,953,950 (GRCm39)	missense	probably damaging	1.00
R9035:Dnai4	UTSW	4	102,905,499 (GRCm39)	nonsense	probably null
R9060:Dnai4	UTSW	4	102,947,750 (GRCm39)	missense	probably benign	0.06
R9132:Dnai4	UTSW	4	102,916,930 (GRCm39)	missense	probably damaging	1.00
R9141:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
R9188:Dnai4	UTSW	4	102,939,332 (GRCm39)	missense
R9426:Dnai4	UTSW	4	102,906,743 (GRCm39)	missense	probably damaging	0.98
Z1176:Dnai4	UTSW	4	102,929,968 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGTCTGAACTCTAGGGCTACAC -3'
(R):5'- ACCACCTACTGCTACTTGGC -3'

Sequencing Primer
(F):5'- CCCACATGGTTCATAGGTAGTTAG -3'
(R):5'- GCTACTTGGCTCTTTTATAATCGAG -3'

Posted On

2014-06-23