Mutagenetix > Incidental Mutation

Incidental Mutation 'R5465:Dnai4'

433198

Institutional Source

Beutler Lab

Gene Symbol

Dnai4

Ensembl Gene

ENSMUSG00000035126

Gene Name

dynein axonemal intermediate chain 4

Synonyms

Wdr78

MMRRC Submission

043026-MU

Accession Numbers

Essential gene?

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

Stock #

R5465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102895262-102971521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102906758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 685 (D685V)

Ref Sequence

ENSEMBL: ENSMUSP00000102481 (fasta)

Gene Model

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

AlphaFold

E9PYY5

Predicted Effect

probably benign
Transcript: ENSMUST00000036451

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126

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

probably benign
Transcript: ENSMUST00000036557

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126

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

probably damaging
Transcript: ENSMUST00000106868
AA Change: D685V

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

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D685V

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

probably benign
Transcript: ENSMUST00000116316

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp1	T	C	7: 30,136,277 (GRCm39)	D500G	probably benign	Het
Atg7	G	A	6: 114,629,493 (GRCm39)	G4R	probably benign	Het
Atp11b	G	A	3: 35,864,333 (GRCm39)	V302I	probably benign	Het
Cacna1b	C	T	2: 24,540,438 (GRCm39)		probably null	Het
Ccna1	T	C	3: 54,953,065 (GRCm39)	H234R	probably benign	Het
Cplx2	G	A	13: 54,527,352 (GRCm39)	E79K	possibly damaging	Het
Gnb2	A	G	5: 137,526,775 (GRCm39)	I380T	probably damaging	Het
Gpr162	A	T	6: 124,838,134 (GRCm39)	V172D	probably damaging	Het
Gtf2a1	A	C	12: 91,534,565 (GRCm39)	F191V	possibly damaging	Het
Ift172	A	T	5: 31,418,862 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,658,255 (GRCm39)	Y272H	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,136,506 (GRCm39)	S2203P	probably damaging	Het
Map3k1	A	T	13: 111,892,654 (GRCm39)	L867Q	probably benign	Het
Ncapd2	A	T	6: 125,153,746 (GRCm39)	F656L	probably damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or5b109	T	C	19: 13,212,052 (GRCm39)	I146T	probably benign	Het
Or7c70	T	C	10: 78,682,852 (GRCm39)	K299R	probably benign	Het
Pcdhb6	A	T	18: 37,467,783 (GRCm39)	I235F	probably damaging	Het
Pzp	A	G	6: 128,463,924 (GRCm39)	S1395P	probably damaging	Het
Ralgapb	C	A	2: 158,290,325 (GRCm39)	T412N	possibly damaging	Het
Rtn4r	A	T	16: 17,969,291 (GRCm39)	M240L	probably benign	Het
Slit2	C	T	5: 48,407,254 (GRCm39)	T895I	probably damaging	Het
Slx4ip	T	G	2: 136,846,867 (GRCm39)	L44R	probably damaging	Het
Sptbn2	C	A	19: 4,800,133 (GRCm39)	Q2196K	probably benign	Het
Tbc1d16	G	A	11: 119,046,885 (GRCm39)	S454L	probably benign	Het
Tet1	T	C	10: 62,675,556 (GRCm39)	H840R	probably benign	Het
Usp47	C	T	7: 111,658,209 (GRCm39)	T176M	probably damaging	Het
Utp6	A	T	11: 79,839,836 (GRCm39)	I284N	probably benign	Het
Vcpip1	T	C	1: 9,817,372 (GRCm39)	H337R	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
R1818:Dnai4	UTSW	4	102,929,854 (GRCm39)	missense	possibly damaging	0.67
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
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'- CTGTTTCTCCTGGAGACATCAC -3'
(R):5'- CCTATGCAATGCTCAGTGGTG -3'

Sequencing Primer
(F):5'- ACATTACCATTTGACTACTTACGTGC -3'
(R):5'- GTGCATGTGTAGCTTCTAGAAATC -3'

Posted On

2016-10-06